Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. [electronic resource]
Producer: 19940804Description: 321-3 p. digitalISSN:- 1059-7794
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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