R Kastally

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

R Wilmotte, J Maréchal, Laurette Morlé et al. · Journal of Clinical Investigation · 1993 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

Hubert de Verneuil, C. Beaumont, Jean‐Charles Deybach et al. · PubMed · 1984 · 70 citations

Life Sciences, Biochemistry, Molecular Biology +8

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

Nicole Alloisio, Laurette Morlé, J Maréchal et al. · Journal of Clinical Investigation · 1991 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K–dependent coagulation factor deficiency

Dhouha Darghouth, Kevin W. Hallgren, Rebecca L. Shtofman et al. · Blood · 2006 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Prevalence of hepatitis C virus infection in Africa: Anti-HCV antibodies in the general population and in patients suffering from cirrhosis or primary liver cancer

Pierre Coursaget, C. Bourdil, R Kastally et al. · Research in Virology · 1990 · 42 citations

Medicine, Infectious Diseases, Internal Medicine +13