Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
about
IMP dehydrogenase: structure, mechanism, and inhibition.Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosisIMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNAPhenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 geneRetinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteinsPrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesInvestigating the mechanism of disease in the RP10 form of retinitis pigmentosa.Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.Guanine nucleotide binding to the Bateman domain mediates the allosteric inhibition of eukaryotic IMP dehydrogenases.IMP dehydrogenase-linked retinitis pigmentosa.Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
P2860
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P2860
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@ast
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@en
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@nl
type
label
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@ast
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@en
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@nl
prefLabel
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@ast
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@en
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@nl
P2093
P356
P1476
Screen of the IMPDH1 gene amon ...... st common mutation, Asp226Asn.
@en
P2093
Eliot L Berson
Melissa A Stillberger
Michael A Sandberg
Terri L McGee
Thaddeus P Dryja
P304
P356
10.1167/IOVS.04-1197
P407
P577
2005-05-01T00:00:00Z