Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families
about
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.The molecular basis of retinal dystrophies in pakistan.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
P2860
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P2860
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families
description
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2011年の論文
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2011年学术文章
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2011年学术文章
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name
Association of pathogenic muta ...... sanguineous Pakistani families
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Association of pathogenic muta ...... sanguineous Pakistani families
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type
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Association of pathogenic muta ...... sanguineous Pakistani families
@ast
Association of pathogenic muta ...... sanguineous Pakistani families
@en
prefLabel
Association of pathogenic muta ...... sanguineous Pakistani families
@ast
Association of pathogenic muta ...... sanguineous Pakistani families
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P2860
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Association of pathogenic muta ...... sanguineous Pakistani families
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P2093
J Fielding Hejtmancik
Muhammad Asif Naeem
Muhammad Iqbal
Paul A Sieving
S Amer Riazuddin
Saima Riazuddin
Shahbaz Ali
Shaheen N Khan
Sheikh Riazuddin
Tahir Farooq
P2860
P304
P356
10.1001/ARCHOPHTHALMOL.2011.267
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P577
2011-10-01T00:00:00Z