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Article

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.

Saudi medical journal - 1 Dec 2017

Ullah Muhammad I, Ahmad Arsalan, Zarkovic Milena, Shah Syed S, Nasir Abdul, Mahmood Saqib, Ahmad Wasim, Hubner Christian A, Hassan Muhammad J

Abstract excerpt

OBJECTIVES: To identify the underlying gene mutation in a large consanguineous Pakistani family. Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan from 2013-2016. Genomic DNA of all recruited...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29209666
DOI: 10.15537/smj.2017.12.20989
PMCID: PMC5787628

Genes

DYSF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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