R Aquaron

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria

Urszula B. Rüfenacht, Laurent Gouya, X. Schneider‐Yin et al. · The American Journal of Human Genetics · 1998 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

Donna Durham‐Pierre, John M. Gardner, Yoshimichi Nakatsu et al. · Nature Genetics · 1994 · 123 citations

Life Sciences, Genetics, Molecular Genetics +10

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši et al. · European Journal of Human Genetics · 2015 · 102 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Metal‐Binding Properties of Calmodulin

Chih‐Lueh A. Wang, R Aquaron, Paul C. Leavis et al. · European Journal of Biochemistry · 1982 · 97 citations · Full text

Natural Sciences, Biochemistry, Biophysics +17

Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

Daniel Beltrán-Valero de Bernabé, Begoña Granadino, Ilaria Chiarelli et al. · The American Journal of Human Genetics · 1998 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12