Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 642 citations

Medicine, Genetics, Molecular Genetics +4

Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

W. A. Gahl, Nava Bashan, Frank Tietze et al. · Science · 1982 · 364 citations

Life Sciences, Biochemistry, Cell Biology +17

CTNS Mutations in an American-Based Population of Cystinosis Patients

Vorasuk Shotelersuk, David E. Larson, Yair Anikster et al. · The American Journal of Human Genetics · 1998 · 174 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.

Damian Labuda, Maria Korab-Laskowska, David E.C. Cole et al. · PubMed · 1996 · 143 citations

Life Sciences, Genetics, Nutritional Sciences +17

Hereditary Disorders in Saguenay-Lac-St-Jean (Quebec, Canada)

Marc De Braekeleer · Human Heredity · 1991 · 142 citations

Life Sciences, Genetics, Molecular Genetics +14