Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction β1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth disease (CMT). A large number of mutations in these genes are listed in databases. Se...

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Bibliografski detalji
Glavni autori: Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga, Zoller, Heinz, Utermann, Gerd, Auer-Grumbach, Michaela, Janecke, Andreas R
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2009
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986587/
https://ncbi.nlm.nih.gov/pubmed/19259128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.29
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