Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

A mutation has been identified in the Rab3A-interacting molecule (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14. The G to A point mutation results in an Arg844His substitution in the C(2)A domain of the protein that segregates with disease. This muta...

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Bibliographic Details
Main Authors:	Johnson, S, Halford, S, Morris, A, Patel, R, Wilkie, SE, Hardcastle, A, Moore, A, Zhang, K, Hunt, D
Format:	Journal article
Language:	English
Published:	2003

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

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