PMC Links for Protein (Select 47578101) - PMC

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Items: 5

Select item 29090321.

A mutation in the SEPN1 SRE reduces selenocysteine incorporation and leads to SEPN1-related myopathy

Baijayanta Maiti, Sandrine Arbogast, Valérie Allamand, Mark Moyle, Christine Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin Flanigan, Michael Howard

Hum Mutat. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Hum Mutat. 2009 Mar; 30(3): 411–416. doi: 10.1002/humu.20879

PMCID:: PMC2909032

Abstract Article PDF–377K

Select item 14569202.

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Valérie Allamand, Pascale Richard, Alain Lescure, Céline Ledeuil, Delphine Desjardin, Nathalie Petit, Corine Gartioux, Ana Ferreiro, Alain Krol, Nadine Pellegrini, J Andoni Urtizberea, Pascale Guicheney

EMBO Rep. 2006 Apr; 7(4): 450–454. Published online 2006 Feb 24. doi: 10.1038/sj.embor.7400648

PMCID:: PMC1456920

Abstract Article PDF–130K

Select item 11425743.

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons

Michael T Howard, Gaurav Aggarwal, Christine B Anderson, Shikha Khatri, Kevin M Flanigan, John F Atkins

EMBO J. 2005 Apr 20; 24(8): 1596–1607. Published online 2005 Mar 24. doi: 10.1038/sj.emboj.7600642

PMCID:: PMC1142574

Abstract Article PDF–930K

Select item 47204334.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

Dennis Lal, Bernd A. Neubauer, Mohammad R. Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

PLoS One. 2016; 11(1): e0146040. Published online 2016 Jan 20. doi: 10.1371/journal.pone.0146040