Titre:
  • Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Auteur:Lenglez, Sandrine; Sablon, Ariane; Fénelon, Gilles; Boland, Anne; Deleuze, Jean François; Boutoleau-Bretonnière, Claire; Nicolas, Gaelle; Demoulin, Jean-Baptiste
Informations sur la publication:Human molecular genetics, 31, 3, page (399-409)
Statut de publication:Publié, 2022-02-01
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Brain -- metabolism
Brain Diseases -- pathology
Calcinosis -- genetics -- metabolism
Heterozygote
Humans
Mutation
Neurodegenerative Diseases -- metabolism
Receptor, Platelet-Derived Growth Factor beta -- genetics -- metabolism
Langue:Anglais
Identificateurs:urn:issn:0964-6906
info:doi/10.1093/hmg/ddab258
info:pii/6365986
info:pmid/34494111