Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype.

Autor:	Wang, Zhihong, Lin, Yanhong, Qiu, Liping, Zheng, Dezhu, Yan, Aizhen, Zeng, Jian, Lan, Fenghua
Předmět:	PATHOGENIC microorganisms RNA splicing GENETIC mutation DUCHENNE muscular dystrophy DELETION mutation
Zdroj:	Clinical Chemistry & Laboratory Medicine; Sep2016, Vol. 54 Issue 9, p1435-1440, 6p
Abstrakt:	The article presents the study on the molecular mechanism of pathogenic nature of novel splicing mutation by hybrid minigene splicing assay. It states that the deletion and duplications were detected in duchenne muscular dystrophy (DMD) gene. It mentions that neither duplication or deletion was discovered in DMD gene of proband.
Databáze:	Complementary Index
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