Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene
about
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 amaurosisInvestigating the mechanism of disease in the RP10 form of retinitis pigmentosa.A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.A comparison of optical and electrophysiological methods for recording retinal ganglion cells during electrical stimulation.Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.Light-Dependent OCT Structure Changes in Photoreceptor Degenerative rd 10 Mouse Retina.
P2860
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P2860
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene
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2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին 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
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@ast
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@en
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
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type
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Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@ast
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@en
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@nl
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Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@ast
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
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Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
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P2093
P2860
P1476
Phenotypic characterization of ...... sn mutation in the IMPDH1 gene
@en
P2093
Anisa I Gire
Catherine J Spellicy
David G Birch
Dianna K Hughbanks-Wheaton
Garry E Fish
Kirsten G Locke
Lori S Sullivan
Petra Kozma
Sara J Bowne
P2860
P304
P356
10.1016/J.AJO.2005.05.027
P407
P577
2005-11-01T00:00:00Z