Protective protein gene mutations in galactosialidosis.

Four different protective protein cDNA mutations, 146A-->G (Q49R), 193T-->C (W65R), 268-269TC-->CT (S90L), and 1184A-->G (Y395C), were identified in six Japanese galactosialidosis patients with various phenotypic manifestations, and another mutation, 746T-->A (Y249N), in a patient of...

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Bibliographic Details
Main Authors: Shimmoto, M, Fukuhara, Y, Itoh, K, Oshima, A, Sakuraba, H, Suzuki, Y
Format: Artigo
Language:Inglês
Published: 1993
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC443297/
https://ncbi.nlm.nih.gov/pubmed/8514852
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