MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study-Reference-Cited by-同舟云学术

MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study

Published:2019-07 Issue:7 Volume:23 Page:468-472
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Ansar Zeeshan¹,Nasir Asghar¹,Moatter Tariq¹,Khan Sara²,Kirmani Salman²,Ibrahim Shahnaz²,Imam Kahkashan¹,Ather Anif¹,Samreen Azra¹,Hasan Zahra¹

Affiliation:

1. Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.

2. Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0262

Reference33 articles.

1. Biochemical Characterization of Patients With In-Frame or Out-of-FrameDMDDeletions Pertinent to Exon 44 or 45 Skipping

2. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

3. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

4. MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

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