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Article

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2008

Sanna V, Zarrilli F, Nardiello P, D'Argenio V, Rocino A, Coppola A, DI Minno G, Castaldo G

Abstract excerpt

Haemophilia A (HA) is an X-linked recessive haemorrhagic disorder caused by a deficiency of coagulation factor VIII. Disease causative mutations are heterogeneous and spread all over the F8 gene sequence, with the exception of intron 22 inversion occurring in about 50% of severe patients. To define the specific mutational repertoire and mutation detection rate, we analysed F8 gene, by polymerase chain reaction...

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Identifiers

PMID: 18459951
DOI: 10.1111/j.1365-2516.2008.01705.x

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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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