Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

  1. Cotrina-Vinagre, F.J.
  2. Rodríguez-García, M.E.
  3. Martín-Hernández, E.
  4. Durán-Aparicio, C.
  5. Merino-López, A.
  6. Medina-Benítez, E.
  7. Martínez-Azorín, F.
Aldizkaria:
Molecular Genetics and Metabolism

ISSN: 1096-7206,  1096-7192

Argitalpen urtea: 2021

Alea: 133

Zenbakia: 2

Orrialdeak: 201-210

Mota: Artikulua

DOI: 10.1016/J.YMGME.2021.02.007 GOOGLE SCHOLAR
Datuen iturria: Scopus