Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
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Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing LossCDHR1 mutations in retinal dystrophies.Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@ast
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@en
type
label
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@ast
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@en
prefLabel
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@ast
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@en
P2860
P1433
P1476
Nonsyndromic retinitis pigment ...... requency of founder mutations.
@en
P2093
Dror Sharon
Eyal Banin
P2860
P304
P577
2015-07-17T00:00:00Z