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Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.

par De Leener, Anne ;Caltabiano, Gianluigi;Erkan, Sanly;Idil, Mehmet;Vassart, Gilbert ;Pardo, Leonardo;Costagliola, Sabine
Référence Human mutation, 29, 1, page (91-98)
Publication Publié, 2008-01

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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
MeSH keywords:	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 générale:	Journal Article
	Research Support, Non-U.S. Gov't
	FLWIN
Langue:	Anglais
Identificateurs:	urn:issn:1059-7794
	info:doi/10.1002/humu.20604
	info:scp/38149058205
	info:pmid/17721928