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...
שמור ב:
| הוצא לאור ב: | Colombia Médica |
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| Principais autores: | , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Universidad del Valle
2015
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| נושאים: | |
| גישה מקוונת: | 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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