Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Genetics in Medicine

Volumn 17, Issue 4, 2015, Pages 262-270

  Zaneveld, Jacques ^a   Siddiqui, Sorath ^b   Li, Huajin ^c   Wang, Xia ^a   Wang, Hui ^a   Wang, Keqing ^a   Li, Hui ^c   Ren, Huanan ^b   Lopez, Irma ^b   Dorfman, Allison ^b   Khan, Ayesha ^b   Wang, Feng ^a   Salvo, Jason ^a   Gelowani, Violet ^a   Li, Yumei ^a   Sui, Ruifang ^c   Koenekoop, Robert ^b   Chen, Rui ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

clinical genetics; copy number variations; diagnosis; macular degeneration; vision research

Indexed keywords

ABCA4 GENE; ADULT; ALLELE; ARTICLE; CANADIAN; CAPTURE SEQUENCING; CLINICAL EVALUATION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; CULTURAL ANTHROPOLOGY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; RECESSIVE GENE; STARGARDT DISEASE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MACULAR DEGENERATION; PATHOLOGY;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; SEQUENCE DELETION;

EID: 84926470142     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.174     Document Type: Article

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