A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
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Chemistry of the retinoid (visual) cycleHomozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.Electrostatic compensation restores trafficking of the autosomal recessive retinitis pigmentosa E150K opsin mutant to the plasma membrane.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7The molecular basis of retinal dystrophies in pakistan.Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization.The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
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A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 December 2009
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vedecký článok
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A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
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A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
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A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
@en
A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
@nl
prefLabel
A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
@en
A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
@nl
P2093
P2860
P1433
P1476
A homozygous p.Glu150Lys mutat ...... ecessive retinitis pigmentosa.
@en
P2093
A I den Hollander
Ahmed Sadeque
Alamdar Hussain
Andreas Gal
Frans P M Cremers
Habib Bokhari
Maleeha Azam
Maria M van Genderen
Muhammad Imran Khan
Muhammad Shakil Khan
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P304
P577
2009-12-03T00:00:00Z