A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family

Journal of Genetics

Volumn 88, Issue 1, 2009, Pages 87-91

  Guo, Hong ^a   Xu, Xueqing ^a   Wang, Kai ^a   Zhang, Bo ^a   Deng, Guohong ^a   Wang, Yan ^a   Bai, Yun ^a  

^a THIRD MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Alternate splicing; Chinese population; Human genetics; Mutation; Trafficking protein particle complex 2 (TRAPPC2); X linked spondyloepiphyseal dysplasia tarda (SEDT)

Indexed keywords

CARRIER PROTEIN; TRANSCRIPTION FACTOR; TRAPPC2 PROTEIN, HUMAN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ASIAN; CHINA; CHONDRODYSPLASIA; FAMILY; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RNA SPLICING; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CHROMOSOMES, HUMAN, X; FAMILY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; RNA SPLICING; TRANSCRIPTION FACTORS;

EID: 69449093478     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-009-0012-3     Document Type: Article

References (10)

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