Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: Identification of a novel genotype-phenotype correlation and clinical refinements

Human Genetics

Volumn 133, Issue 3, 2014, Pages 331-345

  Wang, Feng ^a   Wang, Hui ^a   Tuan, Han Fang ^a   Nguyen, Duy H ^b   Sun, Vincent ^c   Keser, Vafa ^c   Bowne, Sara J ^d   Sullivan, Lori S ^d   Luo, Hongrong ^b,e   Zhao, Ling ^b,e   Wang, Xia ^a   Zaneveld, Jacques E ^a   Salvo, Jason S ^a,f   Siddiqui, Sorath ^c   Mao, Louise ^b   Wheaton, Dianna K ^g   Birch, David G ^g   Branham, Kari E ^h   Heckenlively, John R ^h   Wen, Cindy ^b   Flagg, Ken ^b   Ferreyra, Henry ^b   Pei, Jacqueline ^b   Khan, Ayesha ^c   Ren, Huanan ^c   Wang, Keqing ^a   Lopez, Irma ^c   Qamar, Raheel ^i,j   Zenteno, Juan C ^k   Ayala Ramirez, Raul ^k   Buentello Volante, Beatriz ^k   Fu, Qing ^l   Simpson, David A ^m   Li, Yumei ^a   Sui, Ruifang ⁿ   Silvestri, Giuliana ^m   Daiger, Stephen P ^d,o   Koenekoop, Robert K ^c   Zhang, Kang ^b,e,p   Chen, Rui ^a,f   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^e SICHUAN UNIVERSITY   (China)

^f Graduate Program of Structural and Computational Biology and Molecular Biophysics   (United States)

^g RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ Department of Electrical Computer Engineering   (Pakistan)

^j ISRA UNIVERSITY   (Pakistan)

^k INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^l FUDAN UNIVERSITY   (China)

^m QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

ⁿ PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^o UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^p VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELES; COMPUTATIONAL BIOLOGY; EXONS; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA;

EID: 84894431411     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1381-5     Document Type: Article

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