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...

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Bibliografiske detaljer
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
Format: Artigo
Sprog:Inglês
Udgivet: 1991
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682743/
https://ncbi.nlm.nih.gov/pubmed/1702266
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