title: Heterozygous 'null allele' mutation in the human peripherin/RDS gene.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Meins
authors.forename: G
authors.initials: G
authors.lastname: Grüning
authors.forename: A
authors.initials: A
authors.lastname: Blankenagel
authors.forename: H
authors.initials: H
authors.lastname: Krastel
authors.forename: B
authors.initials: B
authors.lastname: Reck
authors.forename: S
authors.initials: S
authors.lastname: Fuchs
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: 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*
chemical_list: 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