Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing-Reference-Cited by-同舟云学术

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Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

Published:2012-05 Issue:1 Volume:499 Page:139-142
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Xie Shuqi,Lan Zhangzhang,Qu Ning,Wei Xiaoming,Yu Ping,Zhu Qian,Yang Guanghui,Wang Jinming,Shi Quan,Wang Wei,Yang Ling,Yi Xin

Funder

National High Technology Research and Development Program of China

Shenzhen Development and Reform Commission

International Innovation Team on the Cancer Genome Research of Guangdong Province

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference23 articles.

1. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing;Berg;Genet. Med.,2011

2. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide;Buzin;Hum. Mutat.,2005

3. Gene therapy of muscular dystrophy;Chamberlain;Hum. Mol. Genet.,2002

4. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort;Dent;Am. J. Med. Genet. A,2005

5. Characterization of two nonsense mutations in the human dystrophin gene;Fajkusová;J. Neurogenet.,1998

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3. A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing;Human Mutation;2021-03-19

4. Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing;Asian Journal of Andrology;2021

5. Successful strategy of comprehensive pre-implantation genetic testing for Duchenne muscular dystrophy and chromosome balance using karyomapping and fluorescent PCR;Clinical and Experimental Obstetrics & Gynecology;2021

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