Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients...

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Vydáno v:	Colombia Médica
Hlavní autoři:	Angela M Martin, Silvia J Maradei, Harvy M Velasco
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Universidad del Valle 2015
Témata:	Medicina
On-line přístup:	https://www.redalyc.org/articulo.oa?id=28343295008 https://www.redalyc.org/journal/283/28343295008/ https://www.redalyc.org/journal/283/28343295008/html/ https://www.redalyc.org/journal/283/28343295008/28343295008.epub https://www.redalyc.org/journal/283/28343295008/movil
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