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Article

Germline and somatic mosaicism in a female carrier of Hunter disease.

Journal of medical genetics - 1 Feb 1997

Froissart R, Maire I, Bonnet V, Levade T, Bozon D

Abstract excerpt

Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7% in leucocytes, lymphocytes, and lymphoblastoid cells, and 22% in fibroblasts). The proband's sister carries the at risk allele (determined by haplotype analysis), but not the...

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Identifiers

PMID: 9039991
DOI: 10.1136/jmg.34.2.137
PMCID: PMC1050868

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

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