Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD s...
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
About this item
Full title
Author / Creator
Vylet'al, P. , Kublová, M. , Kalbáčová, M. , Hodaňová, K. , Barešová, V. , Stibůrková, B. , Sikora, J. , Hůlková, H. , živný, J. , Majewski, J. , Simmonds, A. , Fryns, J.-P. , Venkat-Raman, G. , Elleder, M. and Kmoch, S.
Publisher
New York, NY: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York, NY: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Autosomal dominant hyperuricemia, gout, renal cysts, and progressive renal insufficiency are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between t...
Alternative Titles
Full title
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_68836490
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68836490
Other Identifiers
ISSN
0085-2538
E-ISSN
1523-1755
DOI
10.1038/sj.ki.5001728
