Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

doi:10.1016/j.bcmd.2007.06.007

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Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

Blood cells, molecules & diseases - 1 Jan 2000

Melo-Nava Brenda M, Benítez Herminia, Palacios J Jorge, Nieva Beatriz, Arenas Diego, Jaloma-Cruz A Rebeca, Navarrete Carmen, Salamanca Fabio, Peñaloza Rosenda

Abstract excerpt

To investigate the origin of von Willebrand disease in Mexican Mestizo population, we analyzed exons 18, 19, 20, 28, 45, and 52 of the VWF gene from 34 Mexican Mestizo index cases, 28 of them affected but not related, using DNA amplification by polymerase chain reaction and direct sequencing. We found three novel mutations: E1447Q in one patient with type 1; P2781S in one patient with type 2M; and P812L in...

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Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

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