A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1365-2141 |
|---|---|
| DOI: | 10.1111/bjh.18112 |
