A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
作者信息
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
机构信息
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.
出版信息
Br J Haematol. 2022 Jun;197(6):e88-e93. doi: 10.1111/bjh.18112. Epub 2022 Mar 17.
PMID:35298850
Abstract
摘要
Zotero 插件