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How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

Limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy) is the most frequent form of LGMD in many European countries. The increasing demand for a molecular diagnosis makes the identification of strategies to improve gene mutation detection crucial. We conducted both a quantitative analysis of calpa...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Fanin, Marina, Nascimbeni, Anna Chiara, Tasca, Elisabetta, Angelini, Corrado
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986267/
https://ncbi.nlm.nih.gov/pubmed/18854869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.193
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