Bernard Aral

A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Manuèle Miné, Jian‐Min Chen, M. Brivet et al. · Human Mutation · 2006 · 79 citations

Life Sciences, Genetics, Molecular Genetics +13

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

Bernard Aral, Geneviève de Saint Basile, Sami Al-Garawi et al. · Human Mutation · 1996 · 37 citations

Life Sciences, Genetics, Molecular Genetics +15

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

Runu Dey, Bernard Aral, Marc Abitbol et al. · Molecular Genetics and Metabolism · 2002 · 16 citations

Life Sciences, Genetics, Molecular Genetics +14