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Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the only abnormalities in each allele examined in this study. A 165-nucleotide duplication (positions 1103-1267) was found in two infantile patients, p...

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Bibliographische Detailangaben
Hauptverfasser: Yoshida, K, Oshima, A, Shimmoto, M, Fukuhara, Y, Sakuraba, H, Yanagisawa, N, Suzuki, Y
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1991
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683306/
https://ncbi.nlm.nih.gov/pubmed/1907800
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