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A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.

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Title: A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Authors: Alsavaf MB; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey., Verboon JM; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Dogan ME; Department of Medical Genetic, Erciyes University, Kayseri, Turkey., Azizoglu ZB; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Okus FZ; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; University College of London, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK., Ozcan A; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Dundar M; Department of Medical Genetic, Erciyes University, Kayseri, Turkey., Eken A; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Donmez-Altuntas H; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Sankaran VG; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Unal E; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey.
Source: British journal of haematology [Br J Haematol] 2022 Jun; Vol. 197 (6), pp. e88-e93. Date of Electronic Publication: 2022 Mar 17.
Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Alsavaf+MB%22">Alsavaf MB</searchLink>; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Verboon+JM%22">Verboon JM</searchLink>; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dogan+ME%22">Dogan ME</searchLink>; Department of Medical Genetic, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Azizoglu+ZB%22">Azizoglu ZB</searchLink>; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Okus+FZ%22">Okus FZ</searchLink>; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; University College of London, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Ozcan+A%22">Ozcan A</searchLink>; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Dundar+M%22">Dundar M</searchLink>; Department of Medical Genetic, Erciyes University, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Eken+A%22">Eken A</searchLink>; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Donmez-Altuntas+H%22">Donmez-Altuntas H</searchLink>; Department of Medical Biology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Sankaran+VG%22">Sankaran VG</searchLink>; Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Unal+E%22">Unal E</searchLink>; Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Gevher Nesibe Genome and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Department of Blood Banking and Transfusion Medicine, Health Science Institution, Erciyes University, Kayseri, Turkey.
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  Data: <searchLink fieldCode="JN" term="%220372544%22">British journal of haematology</searchLink> [Br J Haematol] 2022 Jun; Vol. 197 (6), pp. e88-e93. <i>Date of Electronic Publication: </i>2022 Mar 17.
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  Data: Letter; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372544 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1365-2141 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200071048%22">00071048 </searchLink><i>NLM ISO Abbreviation: </i>Br J Haematol <i>Subsets: </i>MEDLINE
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        Value: 10.1111/bjh.18112
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      – TitleFull: A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
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              Text: 2022 Jun
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