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Article

Bone marrow transplantation in a Hunter patient with P266H mutation.

International journal of molecular medicine - 1 Oct 1999

Coppa G V, Gabrielli O, Cordiali R, Villani G R, Di Natale P

Abstract excerpt

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a lysosomal disease caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS, EC 3.1.6.13). Affected patients show a wide spectrum of clinical phenotypes, from severe to mild. Mutational analysis on this disease resulted in the identification of more than 200 alterations. Bone marrow transplantation (BMT) is considered, at present, an appropriate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10493987
DOI: 10.3892/ijmm.4.4.433

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Bone marrow transplantation in a Hunter patient with P266H mutation.PMID 10493987Read ↗

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