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Article

Human beta-galactosidase gene mutations in morquio B disease.

American journal of human genetics - 1 Nov 1991

Oshima A, Yoshida K, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y

Abstract excerpt

Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-site analysis using StuI, Nsp(7524)I or RsaI confirmed these mutations. In human fibroblasts, mutation F expressed as...

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Identifiers

PMID: 1928092
PMCID: PMC1683264

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