A carregar...

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

In humans and great apes, CHRNA1 encoding the muscle nicotinic acetylcholine receptor α subunit carries an inframe exon P3A, the inclusion of which yields a nonfunctional α subunit. In muscle, the P3A(−) and P3A(+) transcripts are generated in a 1:1 ratio but the functional significance and regulati...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Masuda, Akio, Shen, Xin-Ming, Ito, Mikako, Matsuura, Tohru, Engel, Andrew G., Ohno, Kinji
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2638575/
https://ncbi.nlm.nih.gov/pubmed/18806275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn305
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!