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Article

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Clinical genetics - 1 Jul 2016

Mårtensson A, Ivarsson S, Letelier A, Manderstedt E, Halldén C, Ljung R

Abstract excerpt

UNLABELLED: Many newly diagnosed Swedish severe haemophilia A (HA) patients are sporadic cases. Some genotypically non-carrier mothers have gone on to have two descendants with the same mutation, presumably because of mosaicism. AIMS: To define the origin of mutation in sporadic cases of HA, reveal possible sex-specific differences in mutagenesis and identify potential mosaics among non-carrier mothers. METHOD:...

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Source

Identifiers

PMID: 26661908
DOI: 10.1111/cge.12709

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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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