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UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Human mutation - 1 Aug 2008

Baux David, Faugère Valérie, Larrieu Lise, Le Guédard-Méreuze Sandie, Hamroun Dalil, Béroud Christophe, Malcolm Sue, Claustres Mireille, Roux Anne-Françoise

Abstract excerpt

Using the Universal Mutation Database (UMD) software, we have constructed "UMD-USHbases", a set of relational databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A). Mutations in the Usher syndrome type I causing genes are also recorded in non-syndromic hearing loss cases and mutations in USH2A in non-syndromic retinitis pigmentosa....

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Identifiers

PMID: 18484607
DOI: 10.1002/humu.20780

Genes

CDH23
PCDH15

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