The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Item
http://www.wikidata.org/entity/Q44897284
Comparative sequence analyses of rhodopsin and RPE65 reveal patterns of selective constraint across hereditary retinal disease mutations.Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesEvolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations.Xenopus laevis P23H rhodopsin transgene causes rod photoreceptor degeneration that is more severe in the ventral retina and is modulated by light.Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.Conservation of molecular interactions stabilizing bovine and mouse rhodopsin.Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome.Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.Rhodopsin homeostasis and retinal degeneration: lessons from the fly.Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosaCodon-based detection of positive selection can be biased by heterogeneous distribution of polar amino acids along protein sequences.
P2860

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Item
http://www.wikidata.org/entity/Q44897284
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-my
2004年学术文章
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2004年學術文章
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2004年學術文章
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2004年學術文章
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name
The spectrum of human rhodopsi ...... ns of interspecific variation.
@en
The spectrum of human rhodopsi ...... ns of interspecific variation.
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type
label
The spectrum of human rhodopsi ...... ns of interspecific variation.
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The spectrum of human rhodopsi ...... ns of interspecific variation.
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prefLabel
The spectrum of human rhodopsi ...... ns of interspecific variation.
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The spectrum of human rhodopsi ...... ns of interspecific variation.
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The spectrum of human rhodopsi ...... ns of interspecific variation.
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P2093
P304
P31
P356
10.1016/J.GENE.2004.02.037
P407
P478
P577
P5875
P698