Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
about
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.The USH2A c.2299delG mutation: dating its common origin in a Southern European population.Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsDependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.
P2860
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P2860
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Identification of five novel m ...... s with Usher syndrome type II.
@en
type
label
Identification of five novel m ...... s with Usher syndrome type II.
@en
prefLabel
Identification of five novel m ...... s with Usher syndrome type II.
@en
P2093
P2860
P1433
P1476
Identification of five novel m ...... es with Usher syndrome type II
@en
P2093
Hanjun Dai
Jingzhao Wang
Xiaohui Zhang
P2860
P304
P577
2008-11-17T00:00:00Z