PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
PRDX1基因相关的epi-cblC疾病是一种常见的先天性钴胺素代谢异常,具有单等位基因或双等位基因MMACHC表观突变。
期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-021-01117-2
Cavicchi, Catia; Oussalah, Abderrahim; Falliano, Silvia; Ferri, Lorenzo; Gozzini, Alessia; Gasperini, Serena; Motta, Serena; Rigoldi, Miriam; Parenti, Giancarlo; Tummolo, Albina; Meli, Concetta; Menni, Francesca; Furlan, Francesca; Daniotti, Marta; Malvagia, Sabrina; la Marca, Giancarlo; Chery, Céline; Morange, Pierre-Emmanuel; Tregouet, David; Donati, Maria Alice; Guerrini, Renzo; Guéant, Jean-Louis; Morrone, Amelia