Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9752-1
Reference50 articles.
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2. Almeida AM, Murakami Y, Baker A et al (2007) Targeted therapy for inherited GPI deficiency. N Engl J Med 356(16):1641–1647
3. Ashida H, Hong Y, Murakami Y et al (2005) Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. Mol Biol Cell 16(3):1439–1448
4. Belet S, Fieremans N, Yuan X et al (2014) Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Hum Mutat 35(3):350–355
5. Boccuto L, Aoki K, Flanagan-Steet H et al (2014) A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet 23(2):418–433
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