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Article

[beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Yoshida K, Yanagisawa N

Abstract excerpt

beta-galactosidosis is a lysosomal storage disorder caused by a deficiency of acid beta-galactosidase, including to autosomal recessive diseases; GM1-gangliosidosis (neurovisceral form) and Morquio B disease (skeletal form). To date, 26 different mutations in the beta-galactosidase gene have been identified in patients with beta-galactosidosis from various ethnic groups. Transient expression of the mutant genes...

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PMID: 8577043

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