A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.

Type X collagen is a short-chain homotrimeric collagen expressed in the hypertrophic zone of calcifying cartilage. The clustering of mutations in the carboxyl-terminal NC1 domain in Schmid metaphyseal chondrodysplasia (SMCD) suggested a critical role for this type X collagen domain, but since no dir...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Chan, D, Weng, Y M, Graham, H K, Sillence, D O, Bateman, J F
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC508727/
https://ncbi.nlm.nih.gov/pubmed/9525992
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados