Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B-Reference-Cited by-同舟云学术

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Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

Published:2012-11 Issue:23-24 Volume:413 Page:1866-1871
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Wei Xiaoming,Sun Yan,Xie Jiansheng,Shi Quan,Qu Ning,Yang Guanghui,Cai Jun,Yang Yi,Liang Yu,Wang Wei,Yi Xin

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference23 articles.

1. The genetics of deafness;Nance;Ment Retard Dev Disabil Res Rev,2003

2. Science, medicine, and the future: new interventions in hearing impairment;Steel;BMJ,2000

3. Hereditary hearing loss and its syndromes;Gorlin,1995

4. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment;Dai;J Transl Med,2009

5. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness;Dai;Biochem Biophys Res Commun,2006

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3. A synonymous mutation in exon 39 of FBN1 causes exon skipping leading to Marfan syndrome;Genomics;2020-11

4. Targeted molecular proﬁling of genetic alterations in colorectal cancer using next‑generation sequencing;Oncology Letters;2019-12-10

5. Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study;Scientific Reports;2018-08-03

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