Contribution of SNRNP200 sequence variations to retinitis pigmentosa

Eye (Basingstoke)

Volumn 27, Issue 10, 2013, Pages 1204-1213

  Zhang, X ^a   Lai, T Y Y ^a   Chiang, S W Y ^a   Tam, P O S ^a   Liu, D T L ^a,b   Chan, C K M ^a,c   Pang, C P ^a,b   Zhao, C ^d   Chen, L J ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c HONG KONG EYE HOSPITAL   (Hong Kong)

^d THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

mutation; retinitis pigmentosa; SNRNP200

Indexed keywords

DEAD BOX PROTEIN; HELICASE; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN 200; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; CHILD; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOTE; HUMAN; INHERITANCE; INTRON; MAJOR CLINICAL STUDY; MALE; ORTHOLOGY; POLYMERASE CHAIN REACTION; POPULATION; PRESCHOOL CHILD; PROTEIN FUNCTION; RETINITIS PIGMENTOSA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHINA; COHORT STUDIES; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEINS, SMALL NUCLEAR; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84885392404     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2013.137     Document Type: Article

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