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Article

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Journal of inherited metabolic disease - 1 Mar 2013

Pollard Laura M, Jones Julie R, Wood Tim C

Abstract excerpt

Mucopolysaccharidosis (MPS) disorders are heterogeneous and caused by deficient lysosomal degradation of glycosaminoglycans, resulting in distinct but sometimes overlapping phenotypes. Molecular analysis was performed for a total of 355 MPS patients with MPSI (n = 15), MPSII (n = 218), MPSIIIA (n = 86), MPSIIIB (n = 20), MPSIVA (n = 6) or MPSVI (n = 10). This analysis revealed 104 previously unreported mutations:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22976768
DOI: 10.1007/s10545-012-9533-7

Genes

IDS
SGSH
ARSB
GALNS
IDUA
NAGLU

Provenance

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