PMC Links for Gene (Select 688673) - PMC

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Items: 4

Select item 17359671.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J van Reeuwijk, M Janssen, C van den Elzen, d Beltran-Valero, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M Huynen, A Verrips, C Walsh, P Barth, H Brunner, H van Bokhoven

J Med Genet. 2005 Dec; 42(12): 907–912. Published online 2005 May 13. doi: 10.1136/jmg.2005.031963

PMCID:: PMC1735967

Summary PDF–364K

Select item 55008192.

Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2

Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J. Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y. Vakhrushev, Henrik Clausen, Adnan Halim

J Biol Chem. 2017 Jul 7; 292(27): 11586–11598. Published online 2017 May 16. doi: 10.1074/jbc.M117.794487

PMCID:: PMC5500819

Abstract Article PDF–1.7M

Select item 5402773.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405