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Article

Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2011

Machado F B, Alves Da Silva A F, Rossetti L C, De Brasi C D, Medina-Acosta E

Abstract excerpt

The extraordinary heterogeneous nature of the deleterious mutations in the F8 gene that lead to functional deficiency of clotting factor VIII in haemophilia A makes routine direct mutation profiling difficult. When direct mutation analysis cannot be performed or a causative/candidate mutation is...

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Source

Identifiers

PMID: 21070487
DOI: 10.1111/j.1365-2516.2010.02404.x

Genes

GAB3
TMLHE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21070487-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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