Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: Brachydactyly type C and proximal symphalangism

Journal of Human Genetics

Volumn 53, Issue 4, 2008, Pages 368-374

  Yang, Wei ^a   Cao, Lihua ^b   Liu, Wenli ^c   Jiang, Li ^b   Sun, Miao ^a   Zhang, Dai ^a   Wang, Shusen ^b   Lo, Wilson H Y ^a   Luo, Yang ^b   Zhang, Xue ^a  

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^b CHINA MEDICAL UNIVERSITY   (China)

^c Shenyang No7 People's Hospital   (China)

Author keywords

Brachydactyly type C; Growth differentiation factor 5; Missense mutation; Nonsense mutation; Proximal symphalangism

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 5;

ARTICLE; BRACHYDACTYLY; CARBOXY TERMINAL SEQUENCE; CHINA; CONTROLLED STUDY; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE;

ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOTTING, WESTERN; BONE MORPHOGENETIC PROTEINS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA PRIMERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 41549156919     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0253-7     Document Type: Article

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