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Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato, M; García-Miñaúr, S; Molina Garicano, J; Santos Simarro, F; Del Pino Molina, L; López-Granados, E; Ferreira Cerdán, A; Rodríguez Pena, R.
  • Bravo García-Morato M; Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain. Electronic address: maria.bravo@salud.madrid.org.
  • García-Miñaúr S; Clinical Genetics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Madrid, Spain; Unit 753, Biomedical Research Networking Center on Rare Diseases, (CIBERER), Health Institute Carlos III, Madrid, Spain.
  • Molina Garicano J; Department of Pediatrics, Pediatrics Oncology Unit, Navarra Hospital Center, Pamplona, Spain.
  • Santos Simarro F; Clinical Genetics Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Madrid, Spain; Unit 753, Biomedical Research Networking Center on Rare Diseases, (CIBERER), Health Institute Carlos III, Madrid, Spain.
  • Del Pino Molina L; Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • López-Granados E; Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Ferreira Cerdán A; Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Rodríguez Pena R; Department of Clinical Immunology, IdiPAZ, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
Clin Immunol ; 179: 77-80, 2017 06.
Article en En | MEDLINE | ID: mdl-28302518
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatidilinositol 3-Quinasas / Trastornos del Crecimiento / Hipercalcemia / Síndromes de Inmunodeficiencia / Enfermedades Metabólicas / Nefrocalcinosis Límite: Child / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatidilinositol 3-Quinasas / Trastornos del Crecimiento / Hipercalcemia / Síndromes de Inmunodeficiencia / Enfermedades Metabólicas / Nefrocalcinosis Límite: Child / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article