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PRDX1 gene-related epi-cblC disease is a common type of inb..:
Cavicchi, Catia
;
Oussalah, Abderrahim
;
Falliano, Silvia
...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13148-021-01117-2. , 2021
Link:
https://hal.sorbonne-universite.fr/hal-03278520
RT Journal T1
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
UL https://suche.suub.uni-bremen.de/peid=base-ftunivaixmarseil:oai:HAL:hal-03278520v1&Exemplar=1&LAN=DE A1 Cavicchi, Catia A1 Oussalah, Abderrahim A1 Falliano, Silvia A1 Ferri, Lorenzo A1 Gozzini, Alessia A1 Gasperini, Serena A1 Motta, Serena A1 Rigoldi, Miriam A1 Parenti, Giancarlo A1 Tummolo, Albina A1 Meli, Concetta A1 Menni, Francesca A1 Furlan, Francesca A1 Daniotti, Marta A1 Malvagia, Sabrina A1 La Marca, Giancarlo A1 Chery, Céline A1 Morange, Pierre-Emmanuel A1 Tregouet, David A1 Donati, Maria, Alice A1 Guerrini, Renzo A1 Guéant, Jean-Louis A1 Morrone, Amelia PB HAL CCSD; BioMed Central YR 2021 K1 Secondary epimutation K1 Promoter hypermethylation K1 CpG island K1 Methylmalonic aciduria and homocystinuria K1 cblC type K1 cblC disease K1 Epi-cblC K1 Expanded newborn screening (NBS) K1 [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] JF info:eu-repo/semantics/altIdentifier/doi/10.1186/s13148-021-01117-2 LK http://dx.doi.org/https://hal.sorbonne-universite.fr/hal-03278520 DO https://hal.sorbonne-universite.fr/hal-03278520 SF ELIB - SuUB Bremen
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