Peripherin and the vision thing

@article{Davies1993PeripherinAT,
  title={Peripherin and the vision thing},
  author={Kevin Davies},
  journal={Nature},
  year={1993},
  volume={362},
  pages={92-92}
}
A surprising variety of phenotypes are associated with mutations in the retinal protein, peripherin, including the possible human equivalent of the murine rds (retinal degeneration slow) strain. 
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References

SHOWING 1-10 OF 12 REFERENCES
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
TLDR
A 2–basepair deletion in codon 25 of the human gene in a family with autosomal dominant retinitis punctata albescens is reported, suggesting that this disease, rather thanretinal degeneration pigmentosa, is the comparable human phenotype.
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
TLDR
Findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino–acids in peripherin–RDS may be different in cones and rods.
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
TLDR
The results indicate that some cases of autosomal dominant retinitis pigmentosa are due to mutations at the RDS locus, and three mutations of the human homologue of the rds gene (RDS) are reported here that cosegregate with autosomal dominates retinal degenerations in separate families.
A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa
TLDR
A three-base-pair deletion is identified which results in the loss of one of a pair of highly conserved cysteine residues in the predicted third transmem-brane domain of peripherin, and suggests that mutant peripherin gives rise to retinitis pigmentosa.
Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
TLDR
A base substitution was identified in the peripherin (RDS) gene and DMA sequencing revealed a G to A transition in codon 167 that substitutes aspartic acid for a highly conserved glycine strongly suggesting that it causes the macular disease in this family of patients.
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family
TLDR
A large Swedish family with more than 250 cases of Best's macular dystrophy has been clinically and genetically studied and the retinally expressed gene ROM1, which maps to the same chromosomal region is a candidate for this genetic disease.
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
Linkage analysis with restriction fragment length polymorphisms for the gene for type II procollagen (COL2A1) was carried out in a family with the Stickler syndrome, or arthro-ophthalmopathy, an
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
TLDR
The structure of the "candidate" type II collagen gene (COL2A1) has been directly examined in a relatively large SED family and it is demonstrated that all affected family members carried the same heterozygous single-exon deletion.
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
TLDR
A combination of ophthalmoscopy and electro–oculography was used for diagnosis and linkage analysis mapped the disease–causing gene to chromosome 11q13 and three markers in this region were found to be significantly linked to the disease.
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