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Article

Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.

European journal of medical research - 9 Jan 2024

Wijekoon Nalaka, Gonawala Lakmal, Ratnayake Pyara, Liyanage Roshan, Amaratunga Dhammika, Hathout Yetrib, Steinbusch Harry W M, Dalal Ashwin, Hoffman Eric P, de Silva K Ranil D

Abstract excerpt

BACKGROUND: The phenotype of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its location, effect on reading frame, and its size. The primary objective of this investigation was to determine the frequency and distribution of DMD gene variants (deletions/duplications) in Sri Lanka through the utilization of a combined approach...

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Identifiers

PMID: 38195599
DOI: 10.1186/s40001-023-01600-x
PMCID: PMC10775540

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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