换一批Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
第一作者：
Lenglet, Marion
作者：
Lenglet, Marion [1]
;
Robriquet, Florence [2]
;
Schwarz, Klaus [3]
;
Camps, Carme [4]
;
Couturier, Anne [5]
;
Hoogewijs, David [6]
;
Buffet, Alexandre [7]
;
Knight, Samantha J. L. [8]
;
Gad, Sophie [9]
;
Couve, Sophie [10]
;
Chesnel, Franck [11]
;
Pacault, Mathilde [12]
;
Lindenbaum, Pierre [13]
;
Job, Sylvie [14]
;
Dumont, Solenne [15]
;
Besnard, Thomas [16]
;
Cornec, Marine [17]
;
Dreau, Helene [18]
;
Pentony, Melissa [19]
;
Kvikstad, Erika [20]
;
Deveaux, Sophie [21]
;
Burnichon, Nelly [22]
;
Ferlicot, Sophie [23]
;
Vilaine, Mathias [24]
;
Mazzella, Jean-Michael [25]
;
Airaud, Fabrice [26]
;
Garrec, Celine [27]
;
Heidet, Laurence ;
Irtan, Sabine ;
Mantadakis, Elpis ;
Bouchireb, Karim ;
Debatin, Klaus-Michael ;
Redon, Richard ;
Bezieau, Stephane ;
Bressac-de Paillerets, Brigitte ;
Teh, Bin Tean ;
Girodon, Francois ;
Randi, Maria-Luigia ;
Putti, Maria Caterina ;
Bours, Vincent ;
VanWijk, Richard ;
Goethert, Joachim R. ;
Kattamis, Antonis ;
Janin, Nicolas ;
Bento, Celeste ;
Taylor, Jenny C. ;
Arlot-Bonnemains, Yannick ;
Richard, Stephane ;
Gimenez-Roqueplo, Anne-Paule ;
Cario, Holger ;
Gardie, Betty
作者单位：
Univ Fribourg, Dept Med Physiol, Fribourg, Switzerland
[1]
Democritus Univ Thrace, Fac Med Alexandroupolis, Thrace, Greece
[2]
Univ Oxford, Wellcome Ctr Human Genet, Oxford, England
[3]
Univ Hosp Essen, West German Canc Ctr, Dept Hematol, Essen, Germany
[4]
Ligue Natl Canc, Programme Cartes Identite Tumeurs, Paris, France
[5]
PSL Res Univ, Ecole Prat Hautes Etud, Paris, France
[6]
Oxford Univ Hosp Trust, Mol Haematol Dept, Mol Diagnost Labs, Oxford, England
[7]
Hop Europeen Georges Pompidou, INSERM, UMR 970, Paris Cardiovasc Res Ctr, Paris, France
[8]
Univ Nantes, INSERM, Ctr Rech Cancerol & Immunol Nantes Angers, Nantes, France
[9]
Univ Rennes, CNRS, UMR 6290, Inst Genet & Dev Rennes, Rennes, France
[10]
Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France
[11]
Univ Med Ctr Utrecht, Dept Clin Chem & Haematol, Utrecht, Netherlands
[12]
Univ Padua, Dept Womans & Childs Hlth, Clin Pediat Hematooncol, Padua, Italy
[13]
Natl Heart Ctr Singapore, SingHlth Duke NUS Inst Precis Med, Singapore, Singapore
[14]
Univ Athens, Dept Pediat 1, Athens, Greece
[15]
Univ Ulm, Inst Transfus Med, Ulm, Germany
[16]
Clin Univ St Luc, Ctr Genet Humaine, Brussels, Belgium
[17]
Ctr Hosp & Univ Coimbra, Dept Hematol, Coimbra, Portugal
[18]
Univ Paris Saclay, Dept Biol & Pathol Med, Villejuif, France
[19]
AP HP, Serv Nephrol Pediat, Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
[20]
Univ Paris Sud, Fac Med, Le Kremlin Bicetre, France
[21]
Univ Med Ctr Ulm, Dept Pediat & Adolescent Med, Ulm, Germany
[22]
Univ Padua, Dept Med, Med Clin 1, Padua, Italy
[23]
CHU Sart Tilman, Serv Genet Humaine, Liege, Belgium
[24]
CHU Dijon, Pole Biol, Serv Hematol Biol, Dijon, France
[25]
Ctr Hosp Univ CHU Nantes, Serv Genet Med, Nantes, France
[26]
Univ Paris Descartes Sorbonne, Hop Univ Necker Enfants Malad, AP HP, Dept Chirurg Pediat,Paris Cite
[27]
发布时间
2019-01-14
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Blood
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469-483页
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