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A Restricted Repertoire of de Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

par McEntagart, Meriel;Rainger, Joe;Dixit, Abhijit;Sarkar, Ajoy;Lopez-Laso, Eduardo;Sanchez-Carpintero, Rocio;Barrio, Jesus;Bitoun, Pierre;Prescott, Trine;Riise, Ruth;McKee, Shane;Williamson, Kathleen K.A.;Cook, Jackie;McKie, Lisa;Ceulemans, Berten;Meire, Françoise ;Temple, Isabel Karen;Prieur, Fabienne;Williams, Jonathan;Clouston, Penny;Németh, Andrea H;Banka, Siddharth;Rainger, Jacqueline J.K.;Bengani, Hemant;Handley, Mark;Freyer, Elisabeth;Ross, Allyson;Van Heyningen, Veronica;Marsh, Joseph Arthur;Elmslie, Frances;Fitzpatrick, D.R.;Wheeler, Ann;Seawright, Anne;De Baere, Elfride;Verdin, Hannah;Bergendahl, Therese L.T.;Quigley, Alan
Référence American journal of human genetics, 98, 5, page (981-992)
Publication Publié, 2016-05

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Titre:	A Restricted Repertoire of de Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Auteur:	McEntagart, Meriel; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; Lopez-Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Williamson, Kathleen K.A.; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Françoise; Temple, Isabel Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Németh, Andrea H; Banka, Siddharth; Rainger, Jacqueline J.K.; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; Van Heyningen, Veronica; Marsh, Joseph Arthur; Elmslie, Frances; Fitzpatrick, D.R.; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, Therese L.T.; Quigley, Alan
Informations sur la publication:	American journal of human genetics, 98, 5, page (981-992)
Statut de publication:	Publié, 2016-05
Sujet CREF:	Génétique clinique
	Biologie
Mots-clés:	ACTA2
	aniridia
	calcium
	cerebellar ataxia
	cerebellar hypoplasia
	cerebellar vermis
	inositol triphosphate
	iris
	ITPR1
Note générale:	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:0002-9297
	info:doi/10.1016/j.ajhg.2016.03.018
	info:pii/S0002929716300532
	info:scp/84963969146