Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234WLocalizations of visual cycle components in retinal pigment epitheliumRelease of 11-cis-retinal from cellular retinaldehyde-binding protein by acidic lipids.Self-reported quality of life in patients with retinitis pigmentosa and maculopathy of Bothnia typeFundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosisMutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.The retinal pigment epithelium in health and diseaseCRALBP supports the mammalian retinal visual cycle and cone vision.Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agentsHomozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.Biochemical Measurements of Free Opsin in Macular Degeneration Eyes: Examining the 11-CIS Retinal Deficiency Hypothesis of Delayed Dark Adaptation (An American Ophthalmological Society Thesis).
P2860
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P2860
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene
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2001 nî lūn-bûn
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2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
@zh-mo
2001年論文
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2001年论文
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name
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@ast
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@en
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@nl
type
label
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@ast
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@en
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@nl
prefLabel
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@ast
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@en
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@nl
P2093
P1433
P1476
Ocular phenotype of bothnia dy ...... 34W mutation in the RLBP1 gene
@en
P2093
K Forsman-Semb
L Wachtmeister
M S Burstedt
O Sandgren
T Janunger
P304
P407
P577
2001-02-01T00:00:00Z