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Article

Analysis of Sanfilippo A gene mutations in a large pedigree.

Clinical genetics - 1 Apr 2003

Di Natale P, Villani G R D, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A

Abstract excerpt

Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been described underlying this lysosomal disorder. Expression studies on missense mutations have shown that each alteration was disease-causing and helped to clarify the genotype-phenotype correlation. In this report we describe a large pedigree where the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12702166
DOI: 10.1034/j.1399-0004.2003.00053.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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