PMC Links for Nucleotide (Select 1788187403) - PMC

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Items: 3

Select item 57837431.

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes

Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto

Mol Vis. 2018; 24: 43–58. Published online 2018 Jan 20.

PMCID:: PMC5783743

Abstract Article PDF–27M

Select item 46786612.

Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways

Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder

BMC Res Notes. 2015; 8: 785. Published online 2015 Dec 15. doi: 10.1186/s13104-015-1783-7

PMCID:: PMC4678661

Abstract Article PDF–1.4M

Select item 25777133.

Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East

M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel-Vanagaite, Mohamed Z. Seidahmed, Mustafa A. M. Salih, William B. Dobyns, Christopher A. Walsh

Hum Mutat. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: Hum Mutat. 2008 Nov; 29(11): E231–E241. doi: 10.1002/humu.20844