Journal article icon

Journal article

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

Abstract:

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 mutation is absent in over 200 control chromosomes, indicating that it is not a common polymorphism, and the almost complete sequence conservation of the C(2)A domain between human and rat RIM1 is cons...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
Expand authors...
Journal:
Genomics
Volume:
81
Issue:
3
Pages:
304-314
Publication date:
2003-03-05
DOI:
EISSN:
1089-8646
ISSN:
0888-7543
URN:
uuid:fe9a3c27-8c9d-433d-bb97-1944aaed3f58
Source identifiers:
251609
Local pid:
pubs:251609

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP