Inherited Peripheral Neuropathies Mutation Database

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Title Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Authors Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K
Reference Hum Mol Genet 12: 349-356, 2003 (PubMed ID: 12554688 )
SBF2 (MTMR13): ([Leu351_Glu432del]+[Leu351_Glu432del])

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