A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome

About 85% of Alport syndrome is an X‐linked semi‐dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gen...

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Bibliographic Details
Published in:	Human mutation Vol. 27; no. 10; p. 1061
Main Authors:	King, Kathy, Flinter, Frances A., Green, Peter M.
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-10-2006 Hindawi Limited
Subjects:	Alport syndrome Base Sequence chemical cleavage Collagen Type IV - genetics DHPLC DNA Mutational Analysis - methods Exons - genetics Female Frameshift Mutation - genetics Humans Male Molecular Sequence Data Mutation - genetics mutation screening Mutation, Missense - genetics Nephritis, Hereditary - genetics Nephritis, Hereditary - pathology Sequence Deletion - genetics
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