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

J Genet. 2009 Apr;88(1):87-91. doi: 10.1007/s12041-009-0012-3.

Authors

Hong Guo¹, Xueqing Xu, Kai Wang, Bo Zhang, Guohong Deng, Yan Wang, Yun Bai

Affiliation

¹ Department of Medical Genetics, Third Military Medical University, Gaotanyan St, Chongqing 400038, People's Republic of China.

PMID: 19417549
DOI: 10.1007/s12041-009-0012-3

No abstract available

MeSH terms

Adult
Amino Acid Sequence
Asian People / genetics
Base Sequence
China
Chromosomes, Human, X / genetics
Family
Female
Genetic Diseases, X-Linked / genetics*
Genetic Diseases, X-Linked / pathology
Humans
Male
Membrane Transport Proteins / genetics*
Membrane Transport Proteins / metabolism
Molecular Sequence Data
Mutation*
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / pathology
Pedigree
RNA Splicing / genetics*
Transcription Factors / genetics*
Transcription Factors / metabolism

Substances

Membrane Transport Proteins
TRAPPC2 protein, human
Transcription Factors