{"id":"https://openalex.org/W2160783087","doi":null,"title":"Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.","display_name":"Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W2160783087","mag":"2160783087","pmid":"https://pubmed.ncbi.nlm.nih.gov/23922489","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3733905"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:2727951","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3733905","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3733905","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032737668","display_name":"Elena Mill\u00e1","orcid":"https://orcid.org/0000-0002-5171-165X","observed_orcids":["https://orcid.org/0000-0002-5171-165X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Elena Mill\u00e1","raw_affiliation_strings":["Unidad de Glaucoma y Gen\u00e9tica, Institut Comtal d'Oftalmologia, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Glaucoma y Gen\u00e9tica, Institut Comtal d'Oftalmologia, Barcelona, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007662779","display_name":"Bego\u00f1a Ma\u00f1\u00e9","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bego\u00f1a Ma\u00f1\u00e9","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031065601","display_name":"Susana Duch","orcid":"https://orcid.org/0000-0001-5965-8315","observed_orcids":["https://orcid.org/0000-0001-5965-8315"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Susana Duch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083220703","display_name":"Imma Hern\u00e1n","orcid":"https://orcid.org/0000-0002-7729-0961","observed_orcids":["https://orcid.org/0000-0002-7729-0961"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Imma Hernan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025066108","display_name":"Emma Borr\u00e0s","orcid":"https://orcid.org/0000-0002-8237-6380","observed_orcids":["https://orcid.org/0000-0002-8237-6380"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emma Borr\u00e0s","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000318082","display_name":"Ester Planas\u2010Rigol","orcid":"https://orcid.org/0000-0001-5948-2241","observed_orcids":["https://orcid.org/0000-0001-5948-2241"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ester Planas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108745551","display_name":"Miguel Miranda de Sousa Dias","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miguel de Sousa Dias","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035827719","display_name":"Miguel Carballo","orcid":"https://orcid.org/0000-0002-0222-3588","observed_orcids":["https://orcid.org/0000-0002-0222-3588"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Miguel Carballo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006414653","display_name":"Mar\u00eda Jos\u00e9 Gamundi","orcid":"https://orcid.org/0000-0003-4834-5369","observed_orcids":["https://orcid.org/0000-0003-4834-5369"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mar\u00eda Jos\u00e9 Gamundi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.1869,"has_fulltext":false,"cited_by_count":32,"citation_normalized_percentile":{"value":0.90873542,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"19","issue":null,"first_page":"1707","last_page":"22"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.9976000189781189,"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"}},"topics":[{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.9976000189781189,"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.00039999998989515007,"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/T10563","display_name":"Corneal surgery and disorders","score":0.00019999999494757503,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-glaucoma","display_name":"familial glaucoma","score":0.9919999837875366},{"id":"https://openalex.org/keywords/cyp1b1-mutations","display_name":"CYP1B1 mutations","score":0.8569999933242798},{"id":"https://openalex.org/keywords/myocilin","display_name":"myocilin","score":0.8569999933242798},{"id":"https://openalex.org/keywords/primary-open-angle-glaucoma","display_name":"primary open-angle glaucoma","score":0.8309999704360962},{"id":"https://openalex.org/keywords/primary-congenital-glaucoma","display_name":"primary congenital glaucoma","score":0.9340000152587891},{"id":"https://openalex.org/keywords/juvenile-onset-open-angle-glaucoma","display_name":"juvenile-onset open-angle glaucoma","score":0.9850000143051147},{"id":"https://openalex.org/keywords/ocular-hypertension","display_name":"ocular hypertension","score":0.8820000290870667},{"id":"https://openalex.org/keywords/axenfeld-rieger-syndrome","display_name":"Axenfeld-Rieger syndrome","score":0.9860000014305115},{"id":"https://openalex.org/keywords/digenic-inheritance","display_name":"digenic inheritance","score":0.7850000262260437},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.6159999966621399},{"id":"https://openalex.org/keywords/spanish-population","display_name":"Spanish population","score":0.8429999947547913}],"concepts":[{"id":"https://openalex.org/C2781147369","wikidata":"https://www.wikidata.org/wiki/Q18029808","display_name":"Myocilin","level":4,"score":0.9578831195831299},{"id":"https://openalex.org/C2778527774","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Glaucoma","level":2,"score":0.8441997766494751},{"id":"https://openalex.org/C155701950","wikidata":"https://www.wikidata.org/wiki/Q14905165","display_name":"CYP1B1","level":4,"score":0.7853955626487732},{"id":"https://openalex.org/C2991803831","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Open angle glaucoma","level":3,"score":0.5359234809875488},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.5296772718429565},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5169062614440918},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5096197128295898},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.435219943523407},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.429645299911499},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42008236050605774},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2517104148864746},{"id":"https://openalex.org/C526171541","wikidata":"https://www.wikidata.org/wiki/Q407693","display_name":"Cytochrome P450","level":3,"score":0.05694538354873657},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C62231903","wikidata":"https://www.wikidata.org/wiki/Q1057","display_name":"Metabolism","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000099179","descriptor_name":"Myocilin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000869","descriptor_name":"Anterior Eye Segment","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D000869","descriptor_name":"Anterior Eye Segment","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D001189","descriptor_name":"Aryl Hydrocarbon Hydroxylases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005901","descriptor_name":"Glaucoma","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006023","descriptor_name":"Glycoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006306","descriptor_name":"Health Surveys","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015785","descriptor_name":"Eye Diseases, Hereditary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065633","descriptor_name":"Cytochrome P-450 CYP1B1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:2727951","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3733905","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3733905","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3733905","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"pmid:23922489","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23922489","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":"Molecular vision","raw_type":"Journal Article"},{"id":"mag:2160783087","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23922489","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2727951","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3733905","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W185419275","https://openalex.org/W1514272198","https://openalex.org/W1523693806","https://openalex.org/W1576116834","https://openalex.org/W1577867902","https://openalex.org/W1591298719","https://openalex.org/W1598181185","https://openalex.org/W1948155206","https://openalex.org/W1951869808","https://openalex.org/W1975957761","https://openalex.org/W1986496846","https://openalex.org/W1988346768","https://openalex.org/W2025406121","https://openalex.org/W2029731237","https://openalex.org/W2037179295","https://openalex.org/W2042583371","https://openalex.org/W2043303988","https://openalex.org/W2060040689","https://openalex.org/W2074239537","https://openalex.org/W2078477574","https://openalex.org/W2088244165","https://openalex.org/W2098397015","https://openalex.org/W2100159037","https://openalex.org/W2108508026","https://openalex.org/W2121772417","https://openalex.org/W2123466824","https://openalex.org/W2124334570","https://openalex.org/W2126864136","https://openalex.org/W2128128647","https://openalex.org/W2133749776","https://openalex.org/W2144645229","https://openalex.org/W2146884008","https://openalex.org/W2150005656","https://openalex.org/W2154886355","https://openalex.org/W2158230021","https://openalex.org/W2160934458","https://openalex.org/W2162862482","https://openalex.org/W2182471170","https://openalex.org/W2412739496","https://openalex.org/W2615888485","https://openalex.org/W4211253534","https://openalex.org/W4245839829"],"related_works":["https://openalex.org/W7096626037","https://openalex.org/W1539952910","https://openalex.org/W2098397015","https://openalex.org/W7098106496","https://openalex.org/W7095611494","https://openalex.org/W2078477574","https://openalex.org/W2315078159","https://openalex.org/W2051768682","https://openalex.org/W2100719330","https://openalex.org/W2108508026"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"identify":[2],"myocilin":[3],"(MYOC)":[4],"and":[5,87,124,133,151,158,174,193,250],"cytochrome":[6],"P450,":[7],"family":[8,138],"1,":[9],"subfamily":[10],"B,":[11],"polypeptide":[12],"1":[13],"(CYP1B1)":[14],"mutations":[15,56,163,179,202,219],"in":[16,38,59,103,153,164,182,203,206,221,229,239],"a":[17,105,136,245],"Spanish":[18],"population":[19],"with":[20,44,64,71,77,83,89,135,156,167,186,209,224,244],"different":[21],"clinical":[22],"forms":[23],"of":[24,92,97,140,201,218,236],"familial":[25,45],"glaucoma":[26,46,68,74,80,141,176,211,225],"or":[27,47,142],"ocular":[28],"hypertension":[29],"(OHT).":[30],"METHODS:":[31],"Index":[32],"patients":[33,185,208],"from":[34],"226":[35],"families":[36,99,155,166],"participated":[37],"this":[39],"study.":[40],"Patients":[41],"were":[42,110,180],"diagnosed":[43],"OHT":[48],"by":[49],"complete":[50],"ophthalmologic":[51],"examination.":[52],"Screening":[53],"for":[54,113],"MYOC":[55,106,148,162,222,249],"was":[57,108],"performed":[58],"207":[60],"index":[61,184],"patients:":[62],"96":[63],"adult-onset":[65],"primary":[66,72],"open-angle":[67,79],"(POAG),":[69],"21":[70,120],"congenital":[73,210],"(PCG),":[75],"18":[76],"juvenile-onset":[78],"(JOAG),":[81],"five":[82],"Axenfeld-Rieger":[84],"syndrome":[85],"(ARS),":[86],"67":[88],"other":[90],"types":[91],"glaucoma.":[93],"One":[94],"hundred":[95],"two":[96,146,154],"the":[98,216],"(including":[100],"all":[101],"those":[102],"whom":[104],"mutation":[107],"detected)":[109],"also":[111],"screened":[112],"CYP1B1":[114,178,204],"mutations:":[115],"45":[116],"POAG,":[117,157],"25":[118],"PCG,":[119],"JOAG,":[121],"four":[122],"ARS,":[123],"seven":[125,165],"others.":[126],"RESULTS:":[127],"We":[128,144],"examined":[129],"292":[130],"individuals":[131],"(patients":[132],"relatives)":[134],"positive":[137],"history":[139],"OHT.":[143],"identified":[145],"novel":[147],"variants,":[149],"p.Lys39Arg":[150],"p.Glu218Lys,":[152],"six":[159],"previously":[160],"reported":[161],"POAG":[168,189],"(four),":[169],"JOAG":[170,191],"(one),":[171,173],"PCG":[172,187],"normotensive":[175],"(one).":[177],"found":[181,205],"16":[183],"(nine),":[188],"(three),":[190],"(two),":[192],"ARS":[194],"(two).":[195],"CONCLUSIONS:":[196],"The":[197,232],"high":[198],"percentage":[199,217],"(9/25=36%)":[200],"non-consanguineous":[207],"mandates":[212],"genetic":[213],"testing.":[214],"However,":[215],"(9/207=4.4%)":[220],"associated":[223],"is":[226],"relatively":[227],"low":[228],"our":[230],"population.":[231],"variable":[233],"phenotype":[234],"expression":[235],"glaucoma,":[237],"even":[238],"families,":[240],"cannot":[241],"be":[242],"explained":[243],"digenic":[246],"mechanism":[247],"between":[248],"CYP1B1.":[251]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
