Characteristics of Dystrophin Gene Mutations Among Chinese Patients as Revealed by Multiplex Ligation–Dependent Probe Amplification-Reference-Cited by-同舟云学术

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Characteristics of Dystrophin Gene Mutations Among Chinese Patients as Revealed by Multiplex Ligation–Dependent Probe Amplification

Published:2009-02 Issue:1 Volume:13 Page:23-30
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Wang Qian¹,Li-Ling Jesse¹²,Lin Changkun¹,Wu Yingyu³,Sun Kailai¹,Ma Hongwei³,Jin Chunlian¹²

Affiliation:

1. Department of Medical Genetics, China Medical University, Shenyang, China.

2. Department of Gynecology and Obstetrics, Liaoning Center for Prenatal Diagnosis, Shengjing Hospital, Shenyang, China.

3. Department of Pediatrics, Shengjing Hospital, China Medical University, Shenyang, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0059

Reference30 articles.

1. Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

2. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene

3. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

4. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China;Chinese Medical Journal;2018-04-05

2. Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy;International Journal of Molecular Medicine;2013-09-18

3. Development of a comprehensive real-time PCR assay for dystrophin gene analysis and prenatal diagnosis of Chinese families;Clinica Chimica Acta;2013-09

4. Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method;Biochemical Genetics;2012-12-08

5. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis;Prenatal Diagnosis;2012-03-30

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