A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
Guo
Hong
H
Department of Medical Genetics, Third Military Medical University, Gaotanyan St, Chongqing 400038, People's Republic of China.
Xu
Xueqing
X
Wang
Kai
K
Zhang
Bo
B
Deng
Guohong
G
Wang
Yan
Y
Bai
Yun
Y
D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D041321:Chromosomes, Human, X / Q000235:genetics; D005190:Family; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors