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
Référence American journal of human genetics, 98, 5, page (981-992)
Publication Publié, 2016-05
Article révisé par les pairs
Titre: |
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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 |