SMNT and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity
Louise R. Simard(University of Manitoba), Michel Vanasse(Centre Hospitalier Universitaire Sainte-Justine), Alexandre Semionov(Centre Hospitalier Universitaire Sainte-Justine), Camille Rochette(Centre Hospitalier Universitaire Sainte-Justine), Kenneth Morgan(University of London)
American Journal of Medical Genetics
October 3, 1997
Cited by 48
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