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Article

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Journal of human genetics - 1 Mar 2009

Otomo Takanobu, Muramatsu Takeshi, Yorifuji Tohru, Okuyama Torayuki, Nakabayashi Hiroki, Fukao Toshiyuki, Ohura Toshihiro, Yoshino Makoto, Tanaka Akemi, Okamoto Nobuhiko, Inui Koji, Ozono Keiichi, Sakai Norio

Abstract excerpt

Mucolipidosis (ML) II alpha/beta and III alpha/beta are autosomal recessive diseases caused by a deficiency of alpha and/or beta subunits of the enzyme N-acetylglucosamine-1-phosphotransferase, which is encoded by the GNPTAB gene. We analyzed the GNPTAB gene in 25 ML II and 15 ML III Japanese pat...

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Identifiers

PMID: 19197337
DOI: 10.1038/jhg.2009.3

Genes

GNPTAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19197337-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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