Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets
about
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessTULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
P2860
Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets
description
im August 2008 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 15 August 2008
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2009
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name
Genetic heterogeneity in autos ...... electroretinographic wavelets
@en
Genetic heterogeneity in autos ...... electroretinographic wavelets
@nl
type
label
Genetic heterogeneity in autos ...... electroretinographic wavelets
@en
Genetic heterogeneity in autos ...... electroretinographic wavelets
@nl
prefLabel
Genetic heterogeneity in autos ...... electroretinographic wavelets
@en
Genetic heterogeneity in autos ...... electroretinographic wavelets
@nl
P2093
P2860
P356
P1433
P1476
Genetic heterogeneity in autos ...... electroretinographic wavelets
@en
P2093
A Sumaroka
A V Cideciyan
E A M Windsor
S B Schwartz
T S Aleman
P2860
P2888
P304
P356
10.1038/EYE.2008.264
P407
P577
2008-08-15T00:00:00Z