{"id":"https://openalex.org/W58727049","doi":null,"title":"Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients.","display_name":"Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients.","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W58727049","mag":"58727049","pmid":"https://pubmed.ncbi.nlm.nih.gov/23401651","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3566903"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:2569185","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3566903","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/3566903","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101662178","display_name":"Manoj Kumar","orcid":"https://orcid.org/0000-0001-6334-014X","observed_orcids":["https://orcid.org/0000-0001-6334-014X"]},"institutions":[{"id":"https://openalex.org/I63739035","display_name":"All India Institute of Medical Sciences","ror":"https://ror.org/02dwcqs71","country_code":"IN","type":"education","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210148677","https://openalex.org/I63739035"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Manoj Kumar","raw_affiliation_strings":["Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India","institution_ids":["https://openalex.org/I63739035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026730801","display_name":"Mukesh Tanwar","orcid":"https://orcid.org/0000-0003-0370-0371","observed_orcids":["https://orcid.org/0000-0003-0370-0371"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mukesh Tanwar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019919923","display_name":"Muneeb A. Faiq","orcid":"https://orcid.org/0000-0002-1430-3139","observed_orcids":["https://orcid.org/0000-0002-1430-3139"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Muneeb Ahmad Faiq","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034415345","display_name":"Jhumur Pani","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jhumur Pani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113676997","display_name":"M.B. Shamsi","orcid":"https://orcid.org/0000-0003-2158-6349","observed_orcids":["https://orcid.org/0000-0003-2158-6349"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Monis Bilal Shamsi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074612948","display_name":"Tanuj Dada","orcid":"https://orcid.org/0000-0002-3111-396X","observed_orcids":["https://orcid.org/0000-0002-3111-396X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tanuj Dada","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5030297371","display_name":"Rima Dada","orcid":"https://orcid.org/0000-0002-4920-0789","observed_orcids":["https://orcid.org/0000-0002-4920-0789"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rima Dada","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.6075,"has_fulltext":false,"cited_by_count":25,"citation_normalized_percentile":{"value":0.87384014,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"19","issue":null,"first_page":"220","last_page":"30"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.9951000213623047,"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":0.9951000213623047,"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":0.0007999999797903001,"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":0.000699999975040555,"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/primary-congenital-glaucoma","display_name":"primary congenital glaucoma","score":0.9980000257492065},{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"mitochondrial DNA","score":0.7689999938011169},{"id":"https://openalex.org/keywords/mtdna-variants","display_name":"mtDNA variants","score":0.6269999742507935},{"id":"https://openalex.org/keywords/nonsynonymous-mutations","display_name":"non-synonymous mutations","score":0.7319999933242798},{"id":"https://openalex.org/keywords/d-loop","display_name":"D-loop","score":0.5260000228881836},{"id":"https://openalex.org/keywords/nd2","display_name":"ND2","score":0.828000009059906},{"id":"https://openalex.org/keywords/mitochondrial-complex-i","display_name":"mitochondrial complex I","score":0.3659999966621399},{"id":"https://openalex.org/keywords/mitochondrial-complex-iii","display_name":"mitochondrial complex III","score":0.609000027179718},{"id":"https://openalex.org/keywords/mitochondrial-complex-iv","display_name":"mitochondrial complex IV","score":0.7860000133514404},{"id":"https://openalex.org/keywords/mitochondrial-complex-v","display_name":"mitochondrial complex V","score":0.7979999780654907},{"id":"https://openalex.org/keywords/sift","display_name":"SIFT","score":0.46399998664855957},{"id":"https://openalex.org/keywords/polyphen-2","display_name":"PolyPhen-2","score":0.8980000019073486},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.5230000019073486},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.3659999966621399},{"id":"https://openalex.org/keywords/congenital-blindness","display_name":"congenital blindness","score":0.41499999165534973},{"id":"https://openalex.org/keywords/ribosomal-dna","display_name":"ribosomal DNA","score":0.40700000524520874}],"concepts":[{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.8181135058403015},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6493667364120483},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5885457396507263},{"id":"https://openalex.org/C2778527774","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Glaucoma","level":2,"score":0.5816695690155029},{"id":"https://openalex.org/C149904235","wikidata":"https://www.wikidata.org/wiki/Q7049620","display_name":"Nonsynonymous substitution","level":4,"score":0.4730486273765564},{"id":"https://openalex.org/C153957851","wikidata":"https://www.wikidata.org/wiki/Q201448","display_name":"Transfer RNA","level":4,"score":0.44257014989852905},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4241892993450165},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34084057807922363},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.2724107503890991},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2705681324005127},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0}],"mesh":[{"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":"D003576","descriptor_name":"Electron Transport Complex IV","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"Q000235","qualifier_name":"genetics","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":"D007223","descriptor_name":"Infant","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":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009245","descriptor_name":"NADH Dehydrogenase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025261","descriptor_name":"Mitochondrial Proton-Translocating ATPases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045303","descriptor_name":"Cytochromes b","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:2569185","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3566903","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:3566903","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3566903","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:23401651","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23401651","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:58727049","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23401651","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:2569185","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3566903","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":[{"score":0.9907000064849854,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":53,"referenced_works":["https://openalex.org/W130779702","https://openalex.org/W1507279315","https://openalex.org/W1520213793","https://openalex.org/W1521997410","https://openalex.org/W1538736897","https://openalex.org/W1541838037","https://openalex.org/W1590039198","https://openalex.org/W1601027696","https://openalex.org/W1698153624","https://openalex.org/W1895357271","https://openalex.org/W1968952472","https://openalex.org/W1972625565","https://openalex.org/W1975957761","https://openalex.org/W1978658307","https://openalex.org/W1980578349","https://openalex.org/W1980740976","https://openalex.org/W1985749025","https://openalex.org/W1991332502","https://openalex.org/W2000977900","https://openalex.org/W2002030019","https://openalex.org/W2006973084","https://openalex.org/W2019853899","https://openalex.org/W2024061524","https://openalex.org/W2031916505","https://openalex.org/W2034378072","https://openalex.org/W2039909773","https://openalex.org/W2050571879","https://openalex.org/W2054940707","https://openalex.org/W2056273383","https://openalex.org/W2058178327","https://openalex.org/W2058837644","https://openalex.org/W2061822628","https://openalex.org/W2067034413","https://openalex.org/W2071888455","https://openalex.org/W2074239537","https://openalex.org/W2077598293","https://openalex.org/W2094943813","https://openalex.org/W2102588042","https://openalex.org/W2109372707","https://openalex.org/W2114393353","https://openalex.org/W2115505412","https://openalex.org/W2118770845","https://openalex.org/W2124334570","https://openalex.org/W2126518176","https://openalex.org/W2128727932","https://openalex.org/W2131461587","https://openalex.org/W2139776927","https://openalex.org/W2142425540","https://openalex.org/W2147124891","https://openalex.org/W2147794023","https://openalex.org/W2159479663","https://openalex.org/W2160938004","https://openalex.org/W2165611359"],"related_works":["https://openalex.org/W7098521890","https://openalex.org/W2114393353","https://openalex.org/W2031904003","https://openalex.org/W1144642790","https://openalex.org/W1969707111","https://openalex.org/W2087146961","https://openalex.org/W3014538660","https://openalex.org/W2019853899","https://openalex.org/W4403981811","https://openalex.org/W2050571879"],"abstract_inverted_index":{"PURPOSE:":[0],"Primary":[1],"congenital":[2,21,83,328],"glaucoma":[3,22,60,84,329],"(PCG)":[4],"is":[5,370],"the":[6,27,70,119,163,189,231,272,274,285,291,308,345,349,353],"second":[7],"most":[8],"common":[9],"cause":[10],"of":[11,16,33,45,72,96,100,118,151,182,246,271,276,290,310,323,344,352,386,391],"blindness,":[12],"accounting":[13],"for":[14,93],"0.01%-0.04%":[15],"total":[17,150,181],"blindness":[18],"worldwide.":[19],"Most":[20],"cases":[23,85],"are":[24,35],"mapped":[25],"to":[26,62,307,332,348,373,381],"GLC3A":[28],"locus,":[29],"and":[30,58,129,138,158,174,221,242,262,339,380],"many":[31],"aspects":[32],"PCG":[34,78,156],"still":[36],"unknown.":[37],"Recent":[38],"studies":[39,379],"have":[40],"reported":[41],"an":[42],"increased":[43],"frequency":[44,365],"mitochondrial":[46,74,120,141],"DNA":[47,75,107],"(mtDNA)":[48],"sequence":[49,143],"changes":[50,249,255],"in":[51,77,126,155,160,177,188,195,202,208,213,218,224,230,256,284,301,388],"primary":[52,55,82,327],"open-angle":[53],"glaucoma,":[54,57],"angle-closure":[56],"pseudoexfoliation":[59],"compared":[61],"controls.":[63,131,161],"Thus,":[64],"this":[65,375],"study":[66,376],"was":[67,108,122,136],"planned":[68],"with":[69,377],"aim":[71],"detecting":[73],"variations":[76,154,185,229],"cases.":[79],"METHODS:":[80],"Twenty":[81],"were":[86,168,172,176,186,234,360],"selected":[87],"from":[88,110,240,250],"Dr.":[89],"R.":[90],"P.":[91],"Centre":[92],"Ophthalmic":[94],"Sciences":[95,102],"All":[97],"India":[98],"Institute":[99],"Medical":[101],"(AIIMS),":[103],"New":[104],"Delhi,":[105],"India.":[106],"isolated":[109],"whole":[111],"blood":[112],"samples.":[113],"The":[114,132,237],"entire":[115],"coding":[116],"region":[117],"genome":[121,135],"amplified":[123],"by":[124],"PCR":[125],"20":[127,130],"patients":[128,157,251,330,346],"full":[133],"mtDNA":[134,324],"sequenced":[137],"analyzed":[139],"against":[140],"reference":[142],"NC_012920.":[144],"RESULTS:":[145],"MtDNA":[146],"sequencing":[147],"revealed":[148,252],"a":[149,279,298,311,363,371,383],"195":[152,164],"nucleotide":[153],"58":[159,228],"Of":[162,227],"changes,":[165],"43":[166],"(22.05%)":[167],"nonsynonymous,":[169],"82":[170],"(42.05%)":[171],"synonymous,":[173],"30":[175],"RNA":[178,198,204],"genes.":[179],"A":[180],"39/195":[183],"(20.00%)":[184],"observed":[187],"D-loop":[190],"(hypervariable":[191],"region),":[192],"19/195":[193],"(9.74%)":[194],"different":[196,389,392],"ribosomal":[197],"(rRNAs),":[199],"11/195":[200],"(5.64%)":[201],"transfer":[203],"(tRNAs),":[205],"66/195":[206],"(33.84%)":[207],"complex":[209,214,219,225],"I,":[210],"17/195":[211],"(8.71%)":[212],"III,":[215],"27/195":[216],"(13.84%)":[217],"IV,":[220],"15/195":[222],"(7.69%)":[223],"V.":[226],"controls,":[232],"14":[233],"nonsynonymous":[235,248],"changes.":[236],"Sorting":[238],"Intolerant":[239],"Tolerant":[241],"Polymorphism":[243],"Phenotyping":[244],"analyses":[245],"all":[247],"two":[253],"pathogenic":[254],"NADH-ubiquinone":[257],"oxidoreductase":[258],"chain":[259],"2":[260],"(ND2)":[261],"cytochrome":[263,286],"oxidase":[264],"subunit":[265,289],"III":[266],"(COXIII)":[267],"subunits.":[268],"In":[269,295],"one":[270],"patients,":[273],"insertion":[275],"cytosine":[277],"introduced":[278],"frame":[280],"shift":[281],"change":[282],"(p.Ile104AsnfsX26)":[283],"b":[287],"(CYB)":[288],"electron":[292],"transport":[293],"chain.":[294],"another":[296],"patient,":[297],"variation":[299],"(G8572A)":[300],"ATP":[302],"synthase":[303],"8":[304],"(ATpase8)":[305],"led":[306],"introduction":[309],"stop":[312],"codon":[313],"or":[314],"termination":[315],"at":[316,362],"amino":[317],"acid":[318],"position":[319],"69.":[320],"Haplogroup/phylogenetic":[321],"analysis":[322],"showed":[325],"that":[326],"belong":[331],"three":[333],"macrohaplogroups:":[334],"M":[335],"(4),":[336],"N":[337],"(15),":[338],"L":[340],"(1).":[341],"Fifty":[342],"percent":[343],"belonged":[347],"H2a2a":[350],"lineage":[351],"N-derived":[354],"haplogroup.":[355],"CONCLUSIONS:":[356],"Although":[357],"several":[358],"mutations":[359],"found":[361],"higher":[364],"among":[366,397],"our":[367],"population,":[368],"there":[369],"need":[372],"complement":[374],"functional":[378],"analyze":[382],"large":[384],"number":[385],"samples":[387],"populations":[390],"haplogroups,":[393],"as":[394],"penetrance":[395],"varies":[396],"haplogroups.":[398]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}