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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Библиографические подробности
Опубликовано в: :Orphanet J Rare Dis
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
Предметы:
Research
Online-ссылка: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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