换一批Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
第一作者：
Lovric, Svjetlana
作者：
Lovric, Svjetlana [1]
;
Goncalves, Sara [2]
;
Gee, Heon Yung [3]
;
Oskouian, Babak [4]
;
Srinivas, Honnappa [5]
;
Choi, Won-Il [6]
;
Shril, Shirlee [7]
;
Ashraf, Shazia [8]
;
Tan, Weizhen [9]
;
Rao, Jia [10]
;
Airik, Merlin [11]
;
Schapiro, David [12]
;
Braun, Daniela A. [13]
;
Sadowski, Carolin E. [14]
;
Widmeier, Eugen [15]
;
Jobst-Schwan, Tilman [16]
;
Schmidt, Johanna Magdalena [17]
;
Girik, Vladimir [18]
;
Capitani, Guido [19]
;
Suh, Jung H. [20]
;
Lachaussee, Noelle [21]
;
Arrondel, Christelle [22]
;
Patat, Julie [23]
;
Gribouval, Olivier [24]
;
Furlano, Monica [25]
;
Boyer, Olivia [26]
;
Schmitt, Alain [27]
;
Vuiblet, Vincent [28]
;
Hashmi, Seema [29]
;
Wilcken, Rainer [30]
;
Bernier, Francois P. [31]
;
Innes, A. Micheil [32]
;
Parboosingh, Jillian S. [33]
;
Lamont, Ryan E. [34]
;
Midgley, Julian P. ;
Wright, Nicola ;
Majewski, Jacek ;
Zenker, Martin ;
Schaefer, Franz ;
Kuss, Navina ;
Greil, Johann ;
Giese, Thomas ;
Schwarz, Klaus ;
Catheline, Vilain ;
Schanze, Denny ;
Franke, Ingolf ;
Sznajer, Yves ;
Truant, Anne S. ;
Adams, Brigitte ;
Desir, Julie ;
Biemann, Ronald ;
Pei, York ;
Ars, Elisabet ;
Lloberas, Nuria ;
Madrid, Alvaro ;
Dharnidharka, Vikas R. ;
Connolly, Anne M. ;
Willing, Marcia C. ;
Cooper, Megan A. ;
Lifton, Richard P. ;
Simons, Matias ;
Riezman, Howard ;
Antignac, Corinne ;
Saba, Julie D. ;
Hildebrandt, Friedhelm
作者单位：
Novartis Inst BioMed Res, Basel, Switzerland
[1]
Catholic Univ Louvain, Ctr Human Genet, Pediat Neonatol, Brussels, Belgium
[2]
Washington Univ, Sch Med, Dept Pediat, Div Pediat Nephrol, St Louis, MO 63110 USA
[3]
Heidelberg Univ, Ctr Pediat & Adolescent Med, Dept Pediat Hematol & Oncol, Heidelberg, Germany
[4]
Univ Calgary, Alberta Hlth Serv, Dept Med Genet, Calgary, AB, Canada
[5]
Univ Libre Bruxelles, Hop Univ Enfants Reine Fabiola HUDERF, Nephrol Ped, Brussels, Belgium
[6]
Hosp Univ Materno Infantil Vall dHebron, Nefrol Pediat, Barcelona, Spain
[7]
Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Heidelberg, Germany
[8]
Hosp Univ Bellvitge, Nephrol Serv, Catalonia, Spain
[9]
CNRS, Unite Mixte Rech 7369, Lab Matrice Extracellulaire & Dynam Cellulaire, Reims, France
[10]
Univ Libre Bruxelles, ULB Ctr Human Genet, Hop Erasme, Brussels, Belgium
[11]
Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA
[12]
Univ Paris 05, Imagine Inst, Sorbonne Paris Cite, Paris, France
[13]
Univ Ulm, Inst Transfus Med, Ulm, Germany
[14]
Univ Hlth Network, Dept Internal Med, Div Nephrol, Toronto, ON, Canada
[15]
Univ Hosp Magdeburg, Inst Clin Chem & Pathobiochem, Magdeburg, Germany
[16]
Washington Univ, Sch Med, Dept Pediat, Div Rheumatol, St Louis, MO 63110 USA
[17]
UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA
[18]
Univ Autonoma Barcelona, Inst Invest Carlos 3, Mol Biol Lab, Fundacio Puigvert,IIB St Pau,REDinREN
[19]
Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium
[20]
Harvard Med Sch, Boston Childrens Hosp, Div Nephrol, Boston, MA USA
[21]
Sindh Inst Urol & Transplantat, Dept Pediat Nephrol, Karachi, Pakistan
[22]
Heidelberg Univ, Ctr Pediat & Adolescent Med, Dept Neonatol, Heidelberg, Germany
[23]
Heidelberg Univ, Inst Immunol, Heidelberg, Germany
[24]
Univ Hosp Magdeburg, Dept Dermatol, Magdeburg, Germany
[25]
INSERM, Lab Hereditary Kidney Dis, Unite Mixte Rech 1163, Paris, France
[26]
Washington Univ, Sch Med, Dept Neurol, Neuromuscular Div, St Louis, MO 63110 USA
[27]
McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[28]
Univ Calgary, Alberta Hlth Serv, Dept Pediat, Calgary, AB, Canada
[29]
Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA
[30]
Inst Cochin, Inst Natl Sante & Rech Med 1016, Plateforme Microscopie Elect, Paris, France
[31]
Paul Scherrer Inst, Lab Biomol Res, Villigen, Switzerland
[32]
Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany
[33]
Univ Geneva, Natl Ctr Competence Res NCCR Chem Biol, Geneva, Switzerland
[34]
发布时间
2017-11-22
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The Journal of Clinical Investigation
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