Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus | Zendy

SeongKeun Yoo | Zendy; Byung Chan Lim | Zendy; Jiyoung Byeun | Zendy; Hee Hwang | Zendy; Ki Joong Kim | Zendy; Yong Seung Hwang | Zendy; Joon Ho Lee | Zendy; Joong Shin Park | Zendy; Yong-Sun Lee | Zendy; Junghyun Namkung | Zendy; Jungsun Park | Zendy; Seungbok Lee | Zendy; Jong-Yeon Shin | Zendy; JeongSun Seo | Zendy; JongIl Kim | Zendy; JongHee Chae | Zendy

Open Access

Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus

Author(s) -

SeongKeun Yoo,

Byung Chan Lim,

Jiyoung Byeun,

Hee Hwang,

Ki Joong Kim,

Yong Seung Hwang,

Joon Ho Lee,

Joong Shin Park,

Yong-Sun Lee,

Junghyun Namkung,

Jungsun Park,

Seungbok Lee,

Jong-Yeon Shin,

JeongSun Seo,

JongIl Kim,

JongHee Chae

Publication year - 2015

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2014.236380

Subject(s) - massive parallel sequencing , proband , duchenne muscular dystrophy , prenatal diagnosis , exome sequencing , genetics , haplotype , mutation , fetus , biology , medicine , bioinformatics , dna sequencing , allele , pregnancy , gene

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 noninvasive prenatal diagnosis.

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