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Article

Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.

American journal of hematology - 1 Feb 2005

Bicocchi Maria Patrizia, Pasino Mirella, Lanza Tiziana, Bottini Federico, Molinari Angelo Claudio, Caprino Daniela, Rosano Camillo, Acquila Maura

Abstract excerpt

Hemophilia A (HA) is a disorder caused by mutations of the FVIII gene, which is located on the tip of the long arm of the X chromosome. In a cohort of 18 unrelated Italian patients affected with HA of varying severity, we performed mutational screening of the gene by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing of abnormal peaks. We identified five novel mutations and 9...

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Identifiers

PMID: 15682412
DOI: 10.1002/ajh.20234

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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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