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Article

Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.

Clinical chemistry - 1 Jun 2015

Yoo Seong-Keun, Lim Byung Chan, Byeun Jiyoung, Hwang Hee, Kim Ki Joong, Hwang Yong Seung, Lee JoonHo, Park Joong Shin, Lee Yong-Sun, Namkung Junghyun, Park Jungsun, Lee Seungbok, Shin Jong-Yeon, Seo Jeong-Sun, Kim Jong-Il, Chae Jong Hee

Abstract excerpt

BACKGROUND: Noninvasive prenatal diagnosis of monogenic disorders using maternal plasma and targeted massively parallel sequencing is being investigated actively. We previously demonstrated that comprehensive genetic diagnosis of a Duchenne muscular dystrophy (DMD) patient is feasible using a single targeted sequencing platform. Here we demonstrate the applicability of this approach to carrier detection and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Duchenne

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Source

Identifiers

PMID: 25847990
DOI: 10.1373/clinchem.2014.236380

Genes

DMD

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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