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Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2013

Borhany M, Boijout H, Pellequer J-L, Shamsi T, Moulis G, Aguilar-Martinez P, Schved J-F, Giansily-Blaizot M

Abstract excerpt

Inherited factor VII (FVII) deficiency is one of the commonest rare bleeding disorders. It is characterized by a wide molecular and clinical heterogeneity and an autosomal recessive pattern of inheritance. Factor VII-deficient patients are still scarcely explored in Pakistan although rare bleeding disorders became quite common as a result of traditional consanguineous marriages. The aim of the study was to give a...

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PMID: 23731332
DOI: 10.1111/hae.12186

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