Heterozygous 'null allele' mutation in the human peripherin/RDS gene.
Meins
M
M
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Grüning
G
G
Blankenagel
A
A
Krastel
H
H
Reck
B
B
Fuchs
S
S
Schwinger
E
E
Gal
A
A
D000483:Alleles; D000818:Animals; D001120:Arginine; D001483:Base Sequence; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D051379:Mice; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D064531:Peripherins; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics*
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C578996:Prph2 protein, mouse; D001120:Arginine