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Article

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2007

Castaman G, Giacomelli S H, Ghiotto R, Boseggia C, Pojani K, Bulo A, Madeo D, Rodeghiero F

Abstract excerpt

Genetic analysis was carried out in 37 Albanian patients with haemophilia A. The factor VIII intron 22 inversion was detected only in 2/19 (10.5%) apparently unrelated patients with severe haemophilia A, while the intron 1 inversion was absent. A total of 19 different gene mutations were identified. Ten mutations were novel: four null mutations in severe haemophilia A patients (Gln1090X, Cys1832X, 2374delT,...

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PMID: 17498081
DOI: 10.1111/j.1365-2516.2007.01459.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.

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