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pro vyhledávání: '"Johanne H. Klinkspoor"'
Autor:
Femke S. Stet, Frédéric M. Vaz, Johanne H. Klinkspoor, Susan M. I. Goorden, Riekelt H. Houtkooper, Martin A. T. Vervaart, Hilary J. Vernon, Ronald J.A. Wanders, Henk van Lenthe, Willem Kulik
Publikováno v:
Journal of inherited metabolic disease, 45(1), 29-37. Springer Netherlands
Barth syndrome is an X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia, caused by deleterious variants in TAFAZZIN. This gene encodes a phospholipid-lysophospholipid transacylase that is required for the remodeling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2bd8bd17b69fe1edd059a260cc8b45
https://doi.org/10.1002/jimd.12425
https://doi.org/10.1002/jimd.12425
