Mucopolysaccharidosis type VII: Characterization of mutations and molecular heterogeneity

We identified two different exonic point mutations causing β-glucuronidase (βGl) deficiency in two Japanese patients with mucopolysaccharidosis type VII (MPSVII). Enzyme assay of lysates of the lymphocytes and cultured fibroblasts showed little residual activity. The βGl-specific mRNA levels were no...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tomatsu, Shunji, Fukuda, Seiji, Sukegawa, Kazuko, Ikedo, Yuko, Yamada, Shinji, Yamada, Yukiji, Sasaki, Toshiya, Okamoto, Hiroyuki, Kuwahara, Takashi, Yamaguchi, Seiji, Kiman, Tadashi, Shintaku, Haruo, Isshiki, Gen, Orii, Tadao
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682743/
https://ncbi.nlm.nih.gov/pubmed/1702266
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados