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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
详细信息
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作者:
Maxence S. Macia
;
Jan Halbritter
;
Marion Delous
;
Cecilie Bredrup
;
Arthur Gutter
;
Emilie Filhol
;
Anne E.C. Mellgren
;
Sabine Leh
;
Albane Bizet
;
Daniela A. Braun
;
Heon Y. Gee
;
Flora Silbermann
;
Charline
Henry
;
Pauline Krug
;
Christine Bole-Feysot
;
Patrick Nitschké
;
Dominique Joly
;
Philippe Nicoud
;
André
;
Paget
;
Heidi Haugland
;
Damien Brackmann
;
Nayir Ahmet
;
Richard Sandford
;
Nurcan Cengiz
;
Per M. Knappskog
;
Helge Boman
;
Bolan Linghu
;
Fan
Yan
g
;
Edward J. Oakeley
;
Pierre Saint Mé
;
zard
;
Andreas W. Sailer
;
Stefan Johansson
;
Eyvind Rø
;
dahl
;
Sophie Saunier
;
sophie.saunier@inserm.fr
;
Friedhelm Hildebrandt
;
friedhelm.hildebrandt@childrens.harvard.edu
;
Alexandre Benmerah
刊名:The American Journal of Human Genetics
出版年:2017
出版时间:2 February 2017
年:2017
卷:100
期:2
页码:372
全文大小:51 K
卷排序:100
文摘
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