Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation

Journal of Human Genetics

Volumn 52, Issue 6, 2007, Pages 565-570

  Liu, Jing Yu ^a   Ren, Xiang ^a   Yang, Xiufeng ^b   Guo, Tangying ^b   Yao, Qi ^a   Li, Lin ^c   Dai, Xiaohua ^a   Zhang, Mingchang ^a   Wang, Lejin ^d   Liu, Mugen ^a   Wang, Qing K ^a,c  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b Renmin Hospital of Tanghe   (China)

^c LERNER RESEARCH INSTITUTE   (United States)

^d PEKING UNIVERSITY   (China)

Author keywords

Congenital nystagmus and consistent manifestation; GPR143; Linkage analysis; Mild ocular albinism; Mutation

Indexed keywords

G PROTEIN COUPLED RECEPTOR;

ARTICLE; CHINESE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; HEMIZYGOSITY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPOPLASIA; LINKAGE ANALYSIS; MALE; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OCULAR ALBINISM; RETINA FOVEA; SCORING SYSTEM; STATISTICAL SIGNIFICANCE; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; EYE PROTEINS; FEMALE; HUMANS; LOD SCORE; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE;

EID: 34249675420     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0152-3     Document Type: Article

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