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Article

Structural bases of GM1 gangliosidosis and Morquio B disease.

Journal of human genetics - 1 Sept 2009

Morita Mizuki, Saito Seiji, Ikeda Kazuyoshi, Ohno Kazuki, Sugawara Kanako, Suzuki Toshihiro, Togawa Tadayasu, Sakuraba Hitoshi

Abstract excerpt

Allelic mutations of the lysosomal beta-galactosidase gene cause heterogeneous clinical phenotypes, such as GM1 gangliosidosis and Morquio B disease, the former being further classified into three variants, namely infantile, juvenile and adult forms; and heterogeneous biochemical phenotypes were...

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Source

Identifiers

PMID: 19644515
DOI: 10.1038/jhg.2009.70

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19644515-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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