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Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
Recher, Mike; Karjalainen-Lindsberg, Marja-Liisa; Lindlöf, Mikael; Söderlund-Venermo, Maria; Lanzi, Gaetana; Väisänen, Elina; Kumar, Arun; Sadeghi, Mohammadreza; Berger, Christoph T; Alitalo, Tiina; Anttila, Pekka; Kolehmainen, Maija; Franssila, Rauli; Chen, Tingting; Siitonen, Sanna; Delmonte, Ottavia M; Walter, Jolan E; Pessach, Itai; Hess, Christoph; Simpson, Michael A; Navarini, Alexander A; Giliani, Silvia; Hedman, Klaus; Seppänen, Mikko; Notarangelo, Luigi D.
Afiliação
  • Recher M; Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass; Clinic for Primary Immunodeficiency, Medical Outpatient Clinic and Immunobiology Lab, University Hospital, Basel, Switzerland. Electronic address: recherm@uhbs.ch.
  • Karjalainen-Lindsberg ML; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Lindlöf M; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Söderlund-Venermo M; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Lanzi G; Department of Pediatrics, "Angelo Nocivelli" Institute for Molecular Medicine, and the Department of Pathology, Laboratory of Genetic Disorders of Childhood, Children's Hospital, Brescia, Italy.
  • Väisänen E; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Kumar A; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Sadeghi M; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Berger CT; Clinic for Primary Immunodeficiency, Medical Outpatient Clinic and Immunobiology Lab, University Hospital, Basel, Switzerland.
  • Alitalo T; Genetics Laboratory, HUSLAB, Helsinki University Central Hospital, Helsinki, Finland.
  • Anttila P; Helsinki University Central Hospital, Helsinki, Finland.
  • Kolehmainen M; Helsinki University Central Hospital, Helsinki, Finland.
  • Franssila R; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Chen T; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Siitonen S; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Delmonte OM; Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass.
  • Walter JE; Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass.
  • Pessach I; Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass; Department of Pediatric Critical Care, Sheba Medical Center, Tel-Hashomer, and the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Hess C; Clinic for Primary Immunodeficiency, Medical Outpatient Clinic and Immunobiology Lab, University Hospital, Basel, Switzerland.
  • Simpson MA; Division of Genetics and Molecular Medicine, School of Medicine, King's College London, Guy's Hospital, London, United Kingdom.
  • Navarini AA; Division of Genetics and Molecular Medicine, School of Medicine, King's College London, Guy's Hospital, London, United Kingdom.
  • Giliani S; Department of Pediatrics, "Angelo Nocivelli" Institute for Molecular Medicine, and the Department of Pathology, Laboratory of Genetic Disorders of Childhood, Children's Hospital, Brescia, Italy.
  • Hedman K; Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
  • Seppänen M; Helsinki University Central Hospital, Helsinki, Finland.
  • Notarangelo LD; Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass.
J Allergy Clin Immunol ; 133(5): 1462-5, 1465.e1-5, 2014 May.
Article em En | MEDLINE | ID: mdl-24373355

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Proteínas de Ciclo Celular Limite: Animals / Female / Humans Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Proteínas de Ciclo Celular Limite: Animals / Female / Humans Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article