PMC Links for Nucleotide (Select 1701948247) - PMC

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Items: 4

Select item 56510941.

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Yonatan Perez, Ohad Wormser, Yair Sadaka, Ruth Birk, Ginat Narkis, Ohad S. Birk

Biomed Res Int. 2017; 2017: 3470234. Published online 2017 Oct 8. doi: 10.1155/2017/3470234

PMCID:: PMC5651094

Abstract Article PDF–1.7M

Select item 36173742.

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Peter M. Krawitz, Yoshiko Murakami, Angelika Rieß, Marja Hietala, Ulrike Krüger, Na Zhu, Taroh Kinoshita, Stefan Mundlos, Jochen Hecht, Peter N. Robinson, Denise Horn

Am J Hum Genet. 2013 Apr 4; 92(4): 584–589. doi: 10.1016/j.ajhg.2013.03.011

PMCID:: PMC3617374

Abstract Article PDF–447K

Select item 36173723.

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

Lars Hansen, Hasan Tawamie, Yoshiko Murakami, Yuan Mang, Shoaib ur Rehman, Rebecca Buchert, Stefanie Schaffer, Safia Muhammad, Mads Bak, Markus M. Nöthen, Eric P. Bennett, Yusuke Maeda, Michael Aigner, André Reis, Taroh Kinoshita, Niels Tommerup, Shahid Mahmood Baig, Rami Abou Jamra

Am J Hum Genet. 2013 Apr 4; 92(4): 575–583. doi: 10.1016/j.ajhg.2013.03.008