Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy

Neuroscience Letters

Volumn 541, Issue , 2013, Pages 179-183

  Huang, Li ^a   Li, Shiqiang ^a   Xiao, Xueshan ^a   Jia, Xiaoyun ^a   Sun, Wenmin ^a   Gao, Yang ^a   Li, Lin ^a   Wang, Panfeng ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Chinese; Cone rod dystrophy; GUCA1A; Mutation

Indexed keywords

GUANYLATE CYCLASE ACTIVATOR; GUANYLATE CYCLASE ACTIVATOR 1A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHINESE; CONE ROD DYSTROPHY; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOPIA; PHOTOPHOBIA; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD; VISUAL DISORDER;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 84876417304     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2013.02.013     Document Type: Article

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