Article
Protective protein gene mutations in galactosialidosis.
The Journal of clinical investigation - 1 Jun 1993
Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y
Abstract excerpt
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 French-German origin with an atypical clinical course. Y395C was a common mutation in four Japanese patients in infancy and...
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