A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determ...

by Ludmilla OGOUMA-AWORET, Jean-Pierre RABES, Philippe de MAZANCOURT
Published 2020-01-01

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

by Mathilde Di Filippo, Hervé Créhalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P. Aggerbeck, Jean-Pierre Rabès, Frederic Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas
Published 2012-03-01

Identification of a Variant in <i>APOB</i> Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

by Carine Ayoub, Yara Azar, Yara Abou-Khalil, Youmna Ghaleb, Sandy Elbitar, Georges Halaby, Selim Jambart, Marie-Hélène Gannagé-Yared, Cesar Yaghi, Carole Saade Riachy, Ralph El Khoury, Jean-Pierre Rabès, Mathilde Varret, Catherine Boileau, Petra El Khoury, Marianne Abifadel
Published 2021-08-01