Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies and is a genetically and clinically heterogeneous disorder with variable inheritance modes. As several molecules have been reported to have therapeutic effects on CMT, depending on the underlying genetic causes, exact...

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Veröffentlicht in:	Human mutation 2012-11, Vol.33 (11), p.1610-1615
Hauptverfasser:	Choi, Byung-Ok, Koo, Soo Kyung, Park, Mi-Hyun, Rhee, Hwanseok, Yang, Song-Ju, Choi, Kyoung-Gyu, Jung, Sung-Chul, Kim, Han Su, Hyun, Young Se, Nakhro, Khriezhanuo, Lee, Hye Jin, Woo, Hae-Mi, Chung, Ki Wha
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Base Sequence Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - classification Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - genetics Child Child, Preschool DNA - genetics DNA Mutational Analysis Exome Female Genetic Testing - methods Humans INDEL Mutation Infant Korean Male molecular diagnostics Molecular Sequence Data Nerve Tissue Proteins - genetics Neurofilament Proteins - genetics next-generation sequencing Pedigree Polymorphism, Single Nucleotide Sequence Homology, Amino Acid Young Adult
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