Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
- 1 November 2003
- journal article
- Published by Elsevier BV in Kidney International
- Vol. 64 (5), 1580-1587
- https://doi.org/10.1046/j.1523-1755.2003.00269.x
Abstract
No abstract availableKeywords
This publication has 21 references indexed in Scilit:
- Solution Structure and Dynamics of a Calcium Binding Epidermal Growth Factor-like Domain Pair from the Neonatal Region of Human Fibrillin-1Journal of Biological Chemistry, 2003
- Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genesEuropean Journal of Human Genetics, 2003
- Binding of Tamm‐Horsfall protein to complement 1q and complement 1, including influence of hydrogen‐ion concentrationImmunology & Cell Biology, 2002
- Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutationsHuman Mutation, 2002
- The ZP domain is a conserved module for polymerization of extracellular proteinsNature, 2002
- Decreased Renal Expression of the Putative Calcium Oxalate Inhibitor Tamm-Horsfall Protein in the Ethylene Glycol Rat Model of Calcium Oxalate Urolithiasis.Journal of Urology, 2002
- Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1Journal of Molecular Biology, 2002
- Mapping the Binding Domain of Immunoglobulin Light Chains for Tamm-Horsfall ProteinThe American Journal of Pathology, 2001
- Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12American Journal of Human Genetics, 1999
- Abnormal serum uric acid levels in childrenThe Journal of Pediatrics, 1996