Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

American Journal of Human Genetics

Volumn 85, Issue 5, 2009, Pages 617-627

  Zhao, Chen ^a,b   Bellur, Deepti L ^c   Lu, Shasha ^a,b   Zhao, Feng ^a   Grassi, Michael A ^c   Bowne, Sara J ^d   Sullivan, Lori S ^d   Daiger, Stephen P ^d   Chen, Li Jia ^e   Pang, Chi Pui ^e   Zhao, Kanxing ^a   Staley, Jonathan P ^c   Larsson, Catharina ^b  

^a TIANJIN MEDICAL UNIVERSITY   (China)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF CHICAGO   (United States)

^d UNIVERSITY OF TEXAS   (United States)

^e CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

SMALL NUCLEAR RNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SNRNP200 GENE; SPLICEOSOME; YEAST;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; EXONS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; HELA CELLS; HUMANS; LEUCINE; LOD SCORE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEIN, U4-U6 SMALL NUCLEAR; RIBONUCLEOPROTEIN, U5 SMALL NUCLEAR; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA SPLICING; RNA, SMALL NUCLEAR; SEQUENCE HOMOLOGY, AMINO ACID;

SACCHAROMYCETALES;

EID: 71849087061     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.09.020     Document Type: Article

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