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Mutation Detection in the Repeated Part of the PKD1 Gene

โœ Scribed by Jeroen H. Roelfsema; Lia Spruit; Jasper J. Saris; Peter Chang; Yves Pirson; Gert-Jan B. van Ommen; Dorien J.M. Peters; Martijn H. Breuning


Book ID
117852203
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
758 KB
Volume
61
Category
Article
ISSN
0002-9297

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Mutations in the PKD1 gene cause the majority of cases of autosomal dominant polycystic kidney disease. The PKD1 gene codes for a protein of unknown function, polycystin-1, that is predicted to be a receptor. Its large extracellular domain contains 16 copies of novel motif, the PKD repeat, that is l