The genotypic and phenotypic spectrum of PIGA deficiency

BACKGROUND: Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways....

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robinson, Wendy P, Wasserman, Wyeth W, Rossi, Andrea, van Karnebeek, Clara DM
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4348372/
https://ncbi.nlm.nih.gov/pubmed/25885527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0243-8
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