PMC Links for Nucleotide (Select 1519243891) - PMC

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Items: 3

Select item 61804801.

Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

Jin James Zhao, Jonatan Halvardson, Alexej Knaus, Patrik Georgii‐Hemming, Peter Baeck, Peter M. Krawitz, Ann‐Charlotte Thuresson, Lars Feuk

Hum Mutat. 2017 Oct; 38(10): 1394–1401. Published online 2017 Jun 12. doi: 10.1002/humu.23268

PMCID:: PMC6180480

Abstract Article PDF–958K

Select item 48331972.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico A. Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David A. Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami

Am J Hum Genet. 2016 Apr 7; 98(4): 615–626. Published online 2016 Mar 17. doi: 10.1016/j.ajhg.2016.02.007