Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin

Hum Mol Genet. 1993 Jun;2(6):813-4. doi: 10.1093/hmg/2.6.813.

Authors

H Kranich¹, S Bartkowski, M J Denton, S Krey, P Dickinson, C Duvigneau, A Gal

Affiliation

¹ Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.

PMID: 8353500
DOI: 10.1093/hmg/2.6.813

No abstract available

Publication types

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

MeSH terms

Amino Acid Sequence
Base Sequence
Female
Genes, Dominant*
Humans
Lod Score
Male
Molecular Sequence Data
Pedigree
Phenotype
Point Mutation*
Retinitis Pigmentosa / genetics*
Rhodopsin / genetics*

Substances

Rhodopsin