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A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Alsavaf, Mohammad Bilal; Verboon, Jeffrey M; Dogan, Muhammet E; Azizoglu, Zehra Busra; Okus, Fatma Zehra; Ozcan, Alper; Dundar, Munis; Eken, Ahmet; Donmez-Altuntas, Hamiyet; Sankaran, Vijay G; Unal, Ekrem.
Afiliação
  • Alsavaf MB; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
  • Verboon JM; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.
  • Dogan ME; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Azizoglu ZB; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.
  • Okus FZ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ozcan A; Department of Medical Genetic, Erciyes University, Kayseri, Turkey.
  • Dundar M; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.
  • Eken A; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
  • Donmez-Altuntas H; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
  • Sankaran VG; University College of London, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK.
  • Unal E; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
Br J Haematol ; 197(6): e88-e93, 2022 06.
Article em En | MEDLINE | ID: mdl-35298850
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Pancreática Exócrina / Doenças da Medula Óssea / Lipomatose Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Pancreática Exócrina / Doenças da Medula Óssea / Lipomatose Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Turquia