Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
about
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.Yeast ENV9 encodes a conserved lipid droplet (LD) short-chain dehydrogenase involved in LD morphology.
P2860
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
description
2015 nî lūn-bûn
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name
Exome Sequencing Identified a ...... ly-Onset Retinitis Pigmentosa.
@en
type
label
Exome Sequencing Identified a ...... ly-Onset Retinitis Pigmentosa.
@en
prefLabel
Exome Sequencing Identified a ...... ly-Onset Retinitis Pigmentosa.
@en
P2093
P2860
P356
P1476
Exome Sequencing Identified a ...... ly-Onset Retinitis Pigmentosa.
@en
P2093
Dingding Zhang
Jilong Hao
Lulin Huang
P2860
P304
P356
10.1155/2015/942740
P50
P577
2015-06-01T00:00:00Z