A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 525, Issue 1-2, 2003, Pages 61-65

  Xiao, Cuiying ^a,b   Zhang, Sizhong ^a,b   Wang, Jun ^a,b   Qiu, Weimin ^a,b   Chi, Leiting ^a   Li, Yunqing ^a,b   Su, Zhiguang ^a,b  

^a SICHUAN UNIVERSITY   (China)

^b BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

Author keywords

Chinese population; Deletion mutation; SEDL gene; X linked spondyloepiphyseal dysplasia tarda (SEDT)

Indexed keywords

AMINO ACID DERIVATIVE;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 0037427195     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(02)00315-9     Document Type: Article

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