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Article

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2012

Silva Pinto C, Fidalgo T, Salvado R, Marques D, Gonçalves E, Martinho P, Markoff A, Martins N, Letícia Ribeiro M

Abstract excerpt

Haemophilia A (HA), the most commonly inherited bleeding disorder, has well known phenotype heterogeneity, influenced by the type of mutation, modulating factors and development of inhibitors. Nowadays, new technologies in association with bioinformatics tools allow a better genotype/phenotype correlation. With the main objective of identifying familial carrier women and to offer prenatal diagnosis, 141 HA...

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PMID: 21645180
DOI: 10.1111/j.1365-2516.2011.02570.x

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