Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G→T mutations
Marc De Braekeleer(Université du Québec à Chicoutimi), Kenneth Morgan(University of London), M Fujiwara(McGill University Health Centre), G Aubin(Université du Québec à Chicoutimi), Christian Allard, J Daigneault(Université du Québec à Chicoutimi), Fernand Simard(Université du Québec à Chicoutimi)
Cited by 10
Related Papers
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
|Nature Genetics|1999|1.7k
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
|The American Journal of Human Genetics|2006|493
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy
|Journal of Allergy and Clinical Immunology|2011|479