Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Journal of Medical Genetics

Volumn 50, Issue 10, 2013, Pages 674-688

  Wang, Xia ^a   Wang, Hui ^a   Sun, Vincent ^b   Tuan, Han Fang ^a   Keser, Vafa ^b   Wang, Keqing ^a   Ren, Huanan ^b   Lopez, Irma ^b   Zaneveld, Jacques E ^a   Siddiqui, Sorath ^b   Bowles, Stephanie ^a   Khan, Ayesha ^b   Salvo, Jason ^a   Jacobson, Samuel G ^c   Iannaccone, Alessandro ^d   Wang, Feng ^a   Birch, David ^e   Heckenlively, John R ^f   Fishman, Gerald A ^g   Traboulsi, Elias I ^h   Li, Yumei ^a   Wheaton, Dianna ^e   Koenekoop, Robert K ^b   Chen, Rui ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g The Chicago Lighthouse   (United States)

^h LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DATA ANALYSIS; DISEASE CLASSIFICATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CLINICAL GENETICS; GENETIC SCREENING/COUNSELLING; OPHTHALMOLOGY; VISION RESEARCH;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; EXOME; FEMALE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LEBER CONGENITAL AMAUROSIS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA; SENSITIVITY AND SPECIFICITY;

EID: 84890219186     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101558     Document Type: Article

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