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Article

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.

Human molecular genetics - 15 Dec 2003

Tomatsu Shunji, Orii Koji O, Vogler Carole, Nakayama Jun, Levy Beth, Grubb Jeffrey H, Gutierrez Monica A, Shim Soomin, Yamaguchi Seiji, Nishioka Tatsuo, Montano Adriana Maria, Noguchi Akihiko, Orii Tadao, Kondo Naomi, Sly William S

Abstract excerpt

Mucopolysaccharidosis IVA is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme required for the stepwise degradation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S). To generate a model for studies of the pathop...

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Source

Identifiers

PMID: 14583446
DOI: 10.1093/hmg/ddg366

Genes

GALNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14583446-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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