Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347

Hum Mol Genet. 1995 Apr;4(4):775-6. doi: 10.1093/hmg/4.4.775.

Authors

J P Macke¹, J C Hennessey, J Nathans

Affiliation

¹ Department of Molecular Biology, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

PMID: 7633434
DOI: 10.1093/hmg/4.4.775

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alanine / genetics
Alanine / physiology*
Amino Acid Sequence
Base Sequence
DNA
Female
Genes, Dominant
Humans
Male
Molecular Sequence Data
Mutation*
Pedigree
Proline / genetics
Proline / physiology*
Retinitis Pigmentosa / genetics*
Rhodopsin / genetics*

Substances

DNA
Rhodopsin
Proline
Alanine