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pro vyhledávání: '"Maya Lodzki"'
Autor:
Carlos Ferreira, Amit Mary Philosoph, Assaf Arie Barg, Dror S. Shouval, Helly Vernitsky, Ben Pode-Shakked, Gali Heimer, Dana Levinkopf, Gili Kenet, William A. Gahl, Yair Anikster, Mariska Davids, Dina Marek-Yagel, Thierry Vilboux, Ninette Amariglio, Avishay Lahad, Marina Safaniev, Michalle Soudack, Chen Hoffmann, Maya Lodzki, Bruria Ben-Zeev, May Christine V. Malicdan, Naomi Pode-Shakked, Alvit Veber, Ayman Daka, Batia Weiss
Publikováno v:
Molecular Genetics and Metabolism. 128:151-161
Defects of the glycosylphosphatidylinositol (GPI) biosynthesis pathway constitute an emerging subgroup of congenital disorders of glycosylation with heterogeneous phenotypes. A mutation in the promoter of PIGM, resulting in a syndrome with portal vei