Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

doi:10.1016/0888-7543(91)90159-c

Back to search

Article

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Genomics - 1 Oct 1991

Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K, Schwinger E, Schinzel A

Abstract excerpt

It has been shown recently that autosomal dominant retinitis pigmentosa may be caused by point mutations of the rhodopsin gene in a portion of families. In this communication, a large six-generation family with autosomal dominant RP is described. Molecular analysis by PCR amplification followed b...

Topics

Base Sequence
DNA Probes
Humans
Molecular Sequence Data
Mutation
Oligonucleotides
Pedigree
Phenotype
Polymerase Chain Reaction
Restriction Mapping
Retinitis Pigmentosa
Rhodopsin

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.