Claude Féréc

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001 .

Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent

T. Frebourg, C. Férec, G. Le Gac, 2004, British journal of haematology.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of Medical Genetics.