Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families

Japanese Journal of Ophthalmology

Volumn 52, Issue 1, 2008, Pages 48-51

  Ma, Xiang ^a   Li, Xiaoxin ^a   Wang, Lihua ^a  

^a PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

Author keywords

Chinese patients; Juvenile retinoschisis; Mutation; RS1 gene; X linked

Indexed keywords

ARGININE; ASPARTIC ACID; GENOMIC DNA; GLUTAMINE; GLYCINE; HISTIDINE; PROLINE; SERINE;

ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA ISOLATION; DNA SPLICING; EXON; FAMILIAL DISEASE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; LEUKOCYTE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOSCHISIS; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER; XLRS1 GENE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; EXONS; EYE PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RETINOSCHISIS; SEQUENCE ANALYSIS, DNA;

EID: 41549125391     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-007-0488-4     Document Type: Article

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