PMC Links for Nucleotide (Select 1677498209) - PMC

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Items: 4

Select item 27428941.

Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

Yufeng Tong, Wolfram Tempel, Lyudmila Nedyalkova, Farrell MacKenzie, Hee-Won Park

PLoS One. 2009; 4(10): e7165. Published online 2009 Oct 20. doi: 10.1371/journal.pone.0007165

PMCID:: PMC2742894

Abstract Article PDF–863K

Select item 55118052.

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P. Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A. Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A. Gahl, Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan

Mol Genet Genomic Med. 2017 Jul; 5(4): 410–417. Published online 2017 Jun 14. doi: 10.1002/mgg3.300

PMCID:: PMC5511805

Abstract Article PDF–1.7M

Select item 50378903.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies, Hindi N. Alhindi, Mohamed A. Almuhaizea, Mohamed Abouelhoda, Anas M. Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman, Shazia Subhani, Mohamed El-Kalioby, Tariq Faquih, Salma M. Wakil, Nada A. Altassan, Brian F. Meyer, Saeed Bohlega

Hum Genomics. 2016; 10: 32. Published online 2016 Sep 27. doi: 10.1186/s40246-016-0089-8