Titre :
  • Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.
Auteur : De Leener, Anne ; Caltabiano, Gianluigi ; Erkan, Sanly ; Idil, Mehmet ; Vassart, Gilbert ; Pardo, Leonardo ; Costagliola, Sabine
Informations sur la publication : Human mutation, 29, 1, (page 91-98)
Statut de publication : Publié, 2008-01
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés : FSHR
GPCR
hCG
OHSS
TSHR
Mots-clés MeSH : Adult
Amino Acid Sequence
Animals
Base Sequence
COS Cells
Cercopithecus aethiops
Female
Germ-Line Mutation
Humans
Models, Biological
Models, Molecular
Molecular Sequence Data
Ovarian Hyperstimulation Syndrome -- genetics
Pregnancy
Protein Structure, Tertiary
Receptors, FSH -- chemistry
Receptors, FSH -- genetics
Receptors, FSH -- metabolism
Sequence Analysis, DNA
Transfection
Note : Journal Article
Research Support, Non-U.S. Gov't
FLWIN
Langue :
  • Anglais
Identificateurs : urn:issn:1059-7794 
info:doi/10.1002/humu.20604
info:pmid/17721928