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Retinal Dystrophies - Klinisk medicin & internmedicin - inbunden

1 May 2010 Pattern dystrophies are known to be caused by various mutations in the human retinal degeneration slow (RDS)/peripherin gene on 11 Mar 2020 Gene-Pi is a digital PCR learning center with detailed tutorials, latest dPCR information, and statistical analysis tools. 22 May 2014 Now, Salk scientists have discovered a pair of genes that normally keeps eating schedules in sync with daily sleep rhythms, and, when mutated Mendel's studies in pea plants implied that the sum of an individual's phenotype was controlled by genes (or as he called them, unit factors), such that every 13:43.2 and they don't need their heat shock response. 14:01.2 a whole variety of survival genes. 14:05.0 So, that's breast cancer.

Peripherin is a recently characterized type III intermediate filament expressed in the peripheral and the central nervous system. Ekström, Ulf et al. "A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration". Ophthalmic Genetics. 1998, 19(3). 149-156.

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Help. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. Niamh McNally, Paul F. Kenna, Derrick Rancourt, Tanweer Ahmed, Alan Stitt, William H. Colledge, David G. Lloyd, Arpad Palfi, Brian O'Neill, Marian M. Humphries, Peter Humphries, G. Jane Farrar, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene, Human Molecular Genetics, Volume 11, Issue 9, 1 May 2002, Pages 1005 Increased numbers of mutations in the peripherin/RDS (retinal degeneration slow) gene have been identified in families with autosomal dominant retinitis pigmentosa 1 and several kinds of macular dystrophy.

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Gene type: protein coding. Also known as: NEF4; PRPH1.

This protein plays an important role in normal vision.
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We studied the a different protein that the peripherin found in photoreceptors.

Peripherin

This subsection of the Names and taxonomy section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. 1998-07-15 · Peripherin

This subsection of the Names and taxonomy section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry.
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See all available tests in GTR for this gene. Go to complete Gene record for PRPH. Go to Variation Viewer for PRPH variants.

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Gene Ontology (GO) annotations related to this gene include structural molecule activity. peripherin. Gene ID: 5630, updated on 22-Aug-2020. Gene type: protein coding.

Nature 354, 478–480 (1991).