Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
about
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Translational issues for human corneal endothelial tissue engineering.Navigating genetic diagnostics in patients with hearing loss.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.Gene screening facilitates diagnosis of complicated symptoms: A case report.Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.
P2860
Q38656663-8A4B4C7E-33A7-4F3C-92D2-5E7958008BBEQ38816097-47C92456-2E24-41D2-8C7B-636CDB31607BQ38934723-A203BF4C-A3DC-4C8A-9D68-939E7599C5F9Q41696457-046091AE-7BB2-4F11-AA07-92E6FD8BD44BQ46809494-08308033-EE9A-4667-BFFC-4A7FFA07138EQ47169156-B531886C-3F20-42EA-9A97-0CE60E87FC1FQ47749140-7D9C2806-9C10-4092-9E02-42295986B760Q49540439-3A1AD149-C6B2-4C1F-88BF-A9F4B28D84E6
P2860
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@ast
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@en
type
label
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@ast
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@en
prefLabel
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@ast
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@en
P2093
P2860
P1476
Comprehensive molecular diagno ...... tions in Chinese USH patients.
@en
P2093
Binbin Wang
Jacques Eric Zaneveld
Keqing Wang
Lichun Jiang
Ruifang Sui
Xiaofang Liang
P2860
P2888
P356
10.1186/S13023-015-0329-3
P50
P577
2015-09-04T00:00:00Z
P5875
P6179
1009962082