Titre:
  • AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.
Auteur:Alvaro Mercadal, Béatriz; Imbert, Romain; Demeestere, Isabelle; Gervy, C; De Leener, Anne; Englert, Yvon; Costagliola, Sabine; Delbaere, Anne
Informations sur la publication:Human reproduction, 30, 5, page (1196-1202)
Statut de publication:Publié, 2015-05
Sujet CREF:Gynécologie
Déontologie
Bioéthique
Ethique
Obstétrique
Psychologie
Mots-clés:AMH
AMH bioactivity
AMH mutations
POI
premature ovarian insufficiency
MeSH keywords:Adolescent
Adult
Amenorrhea -- genetics
Animals
Anti-Mullerian Hormone -- genetics
Cohort Studies
DNA -- analysis
DNA Mutational Analysis
Exons
Female
Genetic Variation
HEK293 Cells
Humans
Introns
Mice
Mutation
Mutation, Missense
Ovary -- physiology
Primary Ovarian Insufficiency -- genetics
Young Adult
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0268-1161
info:doi/10.1093/humrep/dev042
info:pii/dev042
info:scp/84929756239
info:pmid/25750103