A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family

Molecular Vision

Volumn 17, Issue , 2011, Pages 3271-3278

  Xiao, Xueshan ^a   Guo, Xiangming ^a   Jia, Xiaoyun ^a   Li, Shiqiang ^a   Wang, Panfeng ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE 2D; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT CONE DYSTROPHY; CHILD; CHINESE; CHROMOSOME 17P; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GUCY2D GENE; HETEROZYGOSITY; HUMAN; INFANT; LINKAGE ANALYSIS; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GUANYLATE CYCLASE; HETEROZYGOTE; HUMANS; LOD SCORE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTORS, CELL SURFACE; RETINITIS PIGMENTOSA;

EID: 84862969752     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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