PMC Links for Nucleotide (Select 1677531526) - PMC

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Items: 3

Select item 55008191.

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 54879252.

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng

J Cell Mol Med. 2017 Jul; 21(7): 1388–1393. Published online 2017 Feb 3. doi: 10.1111/jcmm.13068

PMCID:: PMC5487925

Abstract Article PDF–217K

Select item 4199993.

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voit, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner

Am J Hum Genet. 2002 Nov; 71(5): 1033–1043. Published online 2002 Oct 4. doi: 10.1086/342975