Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene

Article ID	Journal	Published Year	Pages	File Type
8311556	Clinica Chimica Acta	2014	5 Pages	PDF

Abstract

Analysis using IDP on PGM disclosed a nonsense mutation in the DMD gene as a cause of ambiguous results of MLPA.

Keywords

NGS MLPA DMD IDP PGM RPR Next-generation sequencing multiplex ligation-dependent probe amplification mutation Duchenne muscular dystrophy

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene

Authors

Emma Tabe Eko Niba, Van Khanh Tran, Le Anh Tuan-Pham, Dung Chi Vu, Ngoc Khanh Nguyen, Van Thanh Ta, Thinh Huy Tran, Tomoko Lee, Yasuhiro Takeshima, Masafumi Matsuo,