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A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
Novice, Taylor; Kariminia, Amina; Del Bel, Kate L; Lu, Henry; Sharma, Mehul; Lim, Chinten J; Read, Jay; Lugt, Mark Vander; Hannibal, Mark C; O'Dwyer, David; Hosler, Mirie; Scharnitz, Thomas; Rizzo, Jason M; Zacur, Jennifer; Priatel, John; Abdossamadi, Sayeh; Bohm, Alexandra; Junker, Anne; Turvey, Stuart E; Schultz, Kirk R; Rozmus, Jacob.
Afiliación
  • Novice T; University of Michigan Medical School, University of Michigan, Ann Arbor, MI, USA.
  • Kariminia A; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Del Bel KL; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Lu H; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Sharma M; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Lim CJ; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Read J; Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA.
  • Lugt MV; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA.
  • Hannibal MC; Division of Pediatric Genetics, Metabolism & Genomic Medicine, Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA.
  • O'Dwyer D; Division of Pulmonary and Critical Care Medicine, University of Michigan, Ann Arbor, MI, USA.
  • Hosler M; Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, MI, USA.
  • Scharnitz T; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.
  • Rizzo JM; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.
  • Zacur J; Department of Dermatology, University of Michigan, Ann Arbor, MI, USA.
  • Priatel J; Department of Pediatrics, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Abdossamadi S; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Bohm A; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Junker A; Division of Clinical Immunology & Allergy, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.
  • Turvey SE; Division of Clinical Immunology & Allergy, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.
  • Schultz KR; Michael Cuccione Childhood Cancer Research Program, BC Children's Hospital Research Institute, Vancouver, Canada.
  • Rozmus J; Division of Pediatric Hematology/Oncology and Bone Marrow Transplant, Department of Pediatrics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, Canada.
J Clin Immunol ; 40(2): 267-276, 2020 02.
Article en En | MEDLINE | ID: mdl-31853824
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Linfocitos B / Inmunodeficiencia Variable Común / Mutación de Línea Germinal / Mutación Missense / Fosfolipasa C gamma / Síndromes de Inmunodeficiencia Tipo de estudio: Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Linfocitos B / Inmunodeficiencia Variable Común / Mutación de Línea Germinal / Mutación Missense / Fosfolipasa C gamma / Síndromes de Inmunodeficiencia Tipo de estudio: Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos