TY  - GEN
AU  - Grüning,G
AU  - Millan,J M
AU  - Meins,M
AU  - Beneyto,M
AU  - Caballero,M
AU  - Apfelstedt-Sylla,E
AU  - Bosch,R
AU  - Zrenner,E
AU  - Prieto,F
AU  - Gal,A
TI  - Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa
SN  - 1059-7794
PY  - 1994///0804
KW  - Adult
KW  - Aged
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Codon
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Intermediate Filament Proteins
KW  - genetics
KW  - Male
KW  - Membrane Glycoproteins
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Neuropeptides
KW  - Pedigree
KW  - Peripherins
KW  - Polymerase Chain Reaction
KW  - methods
KW  - Retinitis Pigmentosa
KW  - Rod Cell Outer Segment
KW  - metabolism
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.1380030326
ER  -