{"id":"https://openalex.org/W2007381889","doi":"https://doi.org/10.1111/j.1399-0004.2011.01751.x","title":"High frequency of OPA1 mutations causing high ADOA prevalence in south\u2010eastern Sicily, Italy","display_name":"High frequency of OPA1 mutations causing high ADOA prevalence in south\u2010eastern Sicily, Italy","publication_year":2011,"publication_date":"2011-07-11","ids":{"openalex":"https://openalex.org/W2007381889","doi":"https://doi.org/10.1111/j.1399-0004.2011.01751.x","mag":"2007381889","pmid":"https://pubmed.ncbi.nlm.nih.gov/21745197"},"language":"en","primary_location":{"id":"doi:10.1111/j.1399-0004.2011.01751.x","doi":"https://doi.org/10.1111/j.1399-0004.2011.01751.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.2011.01751.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/11365/24483","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000709417","display_name":"Gian Nicola Gallus","orcid":"https://orcid.org/0000-0001-5801-223X","observed_orcids":["https://orcid.org/0000-0001-5801-223X"]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"GN Gallus","raw_affiliation_strings":["Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019111111","display_name":"Elena Cardaioli","orcid":"https://orcid.org/0000-0003-2850-6698","observed_orcids":["https://orcid.org/0000-0003-2850-6698"]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E Cardaioli","raw_affiliation_strings":["Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050099789","display_name":"Alessandra Rufa","orcid":"https://orcid.org/0000-0002-2254-2869","observed_orcids":["https://orcid.org/0000-0002-2254-2869"]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Rufa","raw_affiliation_strings":["Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013004009","display_name":"Michele Collura","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Collura","raw_affiliation_strings":["Italian Union of the Blind, Siracusa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Italian Union of the Blind, Siracusa, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023664888","display_name":"Paola Da Pozzo","orcid":"https://orcid.org/0000-0003-3715-3249","observed_orcids":["https://orcid.org/0000-0003-3715-3249"]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"P Da Pozzo","raw_affiliation_strings":["Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046923181","display_name":"Elena Pretegiani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E Pretegiani","raw_affiliation_strings":["Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090059214","display_name":"Manuela Tumino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M Tumino","raw_affiliation_strings":["Department of Paediatrics, University of Catania, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Catania, Catania, Italy","institution_ids":["https://openalex.org/I39063666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107636010","display_name":"Piero Pavone","orcid":"https://orcid.org/0000-0002-5600-9560","observed_orcids":["https://orcid.org/0000-0002-5600-9560"]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"L Pavone","raw_affiliation_strings":["Department of Paediatrics, University of Catania, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, University of Catania, Catania, Italy","institution_ids":["https://openalex.org/I39063666"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041728333","display_name":"Antonio Federico","orcid":"https://orcid.org/0000-0002-5246-1621","observed_orcids":["https://orcid.org/0000-0002-5246-1621","https://orcid.org/0009-0006-1278-9223"]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"A Federico","raw_affiliation_strings":["Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5041728333"],"corresponding_institution_ids":["https://openalex.org/I102064193"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":0.265,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.50870712,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"82","issue":"3","first_page":"277","last_page":"282"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.40450000762939453,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.40450000762939453,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.21879999339580536,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.10249999910593033,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/opa1-gene","display_name":"OPA1 gene","score":0.7409999966621399},{"id":"https://openalex.org/keywords/autosomal-dominant-optic-atrophy","display_name":"autosomal dominant optic atrophy","score":0.9800000190734863},{"id":"https://openalex.org/keywords/opa1-mutations","display_name":"OPA1 mutations","score":0.7549999952316284},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.8159999847412109},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.8379999995231628},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.6420000195503235},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.9120000004768372},{"id":"https://openalex.org/keywords/sicily","display_name":"Sicily","score":0.6039999723434448},{"id":"https://openalex.org/keywords/syracuse","display_name":"Syracuse","score":0.7670000195503235},{"id":"https://openalex.org/keywords/blindness","display_name":"blindness","score":0.46399998664855957},{"id":"https://openalex.org/keywords/migration","display_name":"migration","score":0.5619999766349792},{"id":"https://openalex.org/keywords/alu-insertion","display_name":"Alu insertion","score":0.5569999814033508}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.6694973707199097},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6585497856140137},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.593482494354248},{"id":"https://openalex.org/C2780929884","wikidata":"https://www.wikidata.org/wiki/Q737460","display_name":"Blindness","level":2,"score":0.5607391595840454},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.5175620913505554},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.4521780014038086},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.4276324510574341},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41373875737190247},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3787231743335724},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2282043993473053},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2146148979663849},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.16220629215240479}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007558","descriptor_name":"Italy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012802","descriptor_name":"Sicily","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020558","descriptor_name":"GTP Phosphohydrolases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D029241","descriptor_name":"Optic Atrophy, Autosomal Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D029241","descriptor_name":"Optic Atrophy, Autosomal Dominant","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1399-0004.2011.01751.x","doi":"https://doi.org/10.1111/j.1399-0004.2011.01751.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.2011.01751.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:21745197","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21745197","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical genetics","raw_type":"Journal Article"},{"id":"pmh:oai:usiena-air.unisi.it:11365/24483","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11365/24483","pdf_url":null,"source":{"id":"https://openalex.org/S4377196319","display_name":"Use Siena air (University of Siena)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I102064193","host_organization_name":"University of Siena","host_organization_lineage":["https://openalex.org/I102064193"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:usiena-air.unisi.it:11365/24483","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11365/24483","pdf_url":null,"source":{"id":"https://openalex.org/S4377196319","display_name":"Use Siena air (University of Siena)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I102064193","host_organization_name":"University of Siena","host_organization_lineage":["https://openalex.org/I102064193"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9789000153541565}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320323679","display_name":"Fondazione Monte dei Paschi di Siena","ror":"https://ror.org/022pga911"},{"id":"https://openalex.org/F4320326084","display_name":"Regione Toscana","ror":"https://ror.org/02r6c6d62"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W163190881","https://openalex.org/W1537211747","https://openalex.org/W1967445833","https://openalex.org/W1972659446","https://openalex.org/W1985449116","https://openalex.org/W2015328078","https://openalex.org/W2028762215","https://openalex.org/W2041349738","https://openalex.org/W2050388655","https://openalex.org/W2058837644","https://openalex.org/W2071118353","https://openalex.org/W2074435689","https://openalex.org/W2098571287","https://openalex.org/W2109942343","https://openalex.org/W2120695551","https://openalex.org/W2137288796","https://openalex.org/W2138083349","https://openalex.org/W2141610656","https://openalex.org/W2146861549","https://openalex.org/W2154849370","https://openalex.org/W2162530578","https://openalex.org/W2168154244","https://openalex.org/W2169310648"],"related_works":["https://openalex.org/W2092218128","https://openalex.org/W2554228462","https://openalex.org/W7220901549","https://openalex.org/W2756027065","https://openalex.org/W142200809","https://openalex.org/W2098571287","https://openalex.org/W2009215797","https://openalex.org/W2015328078","https://openalex.org/W2027386857","https://openalex.org/W2079065616"],"abstract_inverted_index":{"Optic":[0],"atrophy":[1,11],"type":[2],"1":[3],"(OPA1)":[4],"gene":[5,40,54],"mutation":[6,96],"causes":[7],"autosomal":[8],"dominant":[9],"optic":[10,63],"(ADOA,":[12],"MIM":[13],"#165500).":[14],"Prevalence":[15],"of":[16,30,38,62,120,131,139,148,152,174],"ADOA":[17,107],"ranges":[18],"from":[19,85],"1:50,000":[20],"in":[21,26,56,72,82,109,115,135,161,166],"most":[22],"populations":[23],"to":[24,128],"1:12,000":[25],"Denmark.":[27,116],"Seventy":[28],"members":[29],"nine":[31],"families":[32],"were":[33,70],"analysed":[34],"for":[35],"the":[36,94,123,129,136,140,171,175],"presence":[37,130],"OPA1":[39,53],"mutations":[41,55,134],"by":[42],"polymerase":[43],"chain":[44],"reaction":[45],"(PCR)":[46],"and":[47,68,154,179],"direct":[48],"sequencing.":[49],"We":[50],"identified":[51],"three":[52,132],"48":[57],"patients":[58,84],"with":[59],"variable":[60],"signs":[61],"atrophy.":[64],"Two":[65],"mutations,":[66],"c.784-21_784-22insAluYb8":[67],"c.876_878delTGT,":[69],"found":[71,81,114],"two":[73],"different":[74,133],"families.":[75,87],"The":[76,88],"third":[77],"mutation,":[78],"c.869G>A,":[79],"was":[80,177],"28":[83],"seven":[86],"haplotype":[89],"analysis":[90],"data":[91],"suggested":[92],"that":[93,145],"c.869G>A":[95],"is":[97,118,144,157],"a":[98,105,146,163],"founder":[99,124],"mutation.":[100],"Our":[101,142],"main":[102],"result":[103],"suggests":[104],"higher":[106],"prevalence":[108],"south-eastern":[110,167],"Sicily":[111],"than":[112],"previously":[113],"This":[117],"because":[119,151],"not":[121],"only":[122],"effect":[125],"but":[126],"also":[127],"geographical":[137],"area":[138],"study.":[141],"hypothesis":[143],"combination":[147],"social":[149],"pressure":[150],"blindness":[153],"migration":[155],"factors":[156],"involved.":[158],"In":[159],"fact,":[160],"Siracusa,":[162],"provincial":[164],"capital":[165],"Sicily,":[168],"St.":[169],"Lucy,":[170],"patron":[172],"saint":[173],"blind":[176],"born":[178],"died.":[180]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}