Grüning, G

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. [electronic resource] - Human mutation 1994 - 321-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1059-7794

10.1002/humu.1380030326 doi


Adult
Aged
Amino Acid Sequence
Base Sequence
Codon
Female
Genes, Dominant
Humans
Intermediate Filament Proteins--genetics
Male
Membrane Glycoproteins
Middle Aged
Molecular Sequence Data
Mutation
Nerve Tissue Proteins
Neuropeptides--genetics
Pedigree
Peripherins
Polymerase Chain Reaction--methods
Retinitis Pigmentosa--genetics
Rod Cell Outer Segment--metabolism
Sequence Deletion