SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate HomeostasisClemens Bergwitz, Harald Jüppner, Nicole M. Roslin et al.|The American Journal of Human Genetics|2006Cited by 493
Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7Sharan Goobie, Johanna M. Rommens, Nadia Ehtesham et al.|The American Journal of Human Genetics|2001Cited by 144
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)Martin Hřebı́ček, Alexey V. Pshezhetsky, Lenka Mrázová et al.|The American Journal of Human Genetics|2006Cited by 96
The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Klaus Wrogemann, Cheryl R. Greenberg et al.|Human Mutation|2004Cited by 77
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Not Caused by Mutations in the Na/Pi Cotransporter NPT2 GeneA Jones, Harriet S. Tenenhouse, Jordana Tzenova et al.|Journal of the American Society of Nephrology|2001Cited by 70