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Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.

Phuong-Thao Mai | Dong-Truc Le | Tan-Trung Nguyen | Hoang-Linh Le Gia | Trung-Hieu Nguyen Le | Minh Le | Duc-Minh Do
BioMed research international | 2019

Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth (CMT) disease and over 80 different mutations have been identified so far. This study analyzed the clinical and genetic characteristics of a Vietnamese CMT family that was affected by a novel GDAP1 mutation.

Pubmed ID: 31179332

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QIAGEN (tool)

RRID:SCR_008539

A commercial organization which provides assay technologies to isolate DNA, RNA, and proteins from any biological sample. Assay technologies are then used to make specific target biomolecules, such as the DNA of a specific virus, visible for subsequent analysis.

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