Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Nature Genetics

Volumn 44, Issue 9, 2012, Pages 972-974

  Chiang, Pei Wen ^a   Wang, Juan ^b   Chen, Yang ^b   Fu, Quan ^c   Zhong, Jing ^b   Chen, Yanhua ^b   Yi, Xin ^b   Wu, Renhua ^b   Gan, Haixue ^a   Shi, Yong ^a   Chen, Yanling ^d   Barnett, Christopher ^e   Wheaton, Dianna ^f   Day, Megan ^g   Sutherland, Joanne ^g   Heon, Elise ^g   Weleber, Richard G ^h   Gabriel, Luis Alexandre Rassi ⁱ   Cong, Peikuan ^d   Chuang, Kuanghsiang ^j   Ye, Sheng ^c   Sallum, Juliana Maria Ferraz ^k   Qi, Ming ^b,d,j   more..

^a Casey Molecular Diagnostic Laboratory   (United States)

^b BGI SHENZHEN   (China)

^c ZHEJIANG UNIVERSITY   (China)

^d ZHEJIANG UNIVERSITY   (China)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^f RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ FEDERAL UNIVERSITY OF GOIÁS   (Brazil)

^j UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^k FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINAMIDE ADENINE DINUCLEOTIDE;

ARTICLE; BIOSYNTHESIS; EXOME; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MISSENSE MUTATION; NMNAT1 GENE; NONSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84865685033     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2370     Document Type: Article

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