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ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen.
Lee, Ashley Sang Eun; Abraham, Roshini S; Basu, Amrita; Lederman, Howard; Cunningham-Rundles, Charlotte.
Afiliação
  • Lee ASE; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: ashleysangeun.lee@mssm.edu.
  • Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Roshini.Abraham@nationwidechildrens.org.
  • Basu A; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA. Electronic address: Amrita.Basu@nationwidechildrens.org.
  • Lederman H; Division of Allergy and Immunology, Johns Hopkins Children's Center, Baltimore, MD, USA. Electronic address: hlederm1@jhmi.edu.
  • Cunningham-Rundles C; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.
Clin Immunol ; 265: 110294, 2024 Aug.
Article em En | MEDLINE | ID: mdl-38914360
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Telangiectasia / Triagem Neonatal / Proteínas Mutadas de Ataxia Telangiectasia / Heterozigoto / Mutação Limite: Female / Humans / Male / Newborn Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Telangiectasia / Triagem Neonatal / Proteínas Mutadas de Ataxia Telangiectasia / Heterozigoto / Mutação Limite: Female / Humans / Male / Newborn Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2024 Tipo de documento: Article