Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia

Autor:	Kenichi Chiba, Etsuro Ito, Seiji Kojima, Akie Kobayashi, Shiori Ishida, Shouichi Ohga, Naoya Kenmochi, Akira Ohara, Satoru Miyano, Fumika Ikeda, Kenichi Yoshida, Hiroko Tanaka, Yoji Sasahara, Kiminori Terui, Takashi Fujita, Tamayo Uechi, Yusuke Okuno, Yukari Nakajima, Aiko Sato-Otsubo, Tsutomu Toki, Takuya Kamio, Rika Kanezaki, Hitoshi Kanno, Yuichi Shiraishi, Hideki Muramatsu, Seishi Ogawa
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Anemia Bone marrow failure Hematology Aplasia Biology medicine.disease Molecular biology 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases 030220 oncology & carcinogenesis medicine Macrocytic anemia Diamond–Blackfan anemia Haploinsufficiency Exome Exome sequencing 030215 immunology
Zdroj:	HAEMATOLOGICA. 102(3):E93-E96
ISSN:	0390-6078
Popis:	Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome, characterized by red blood cell aplasia, macrocytic anemia, variable malformations, and increased risk of malignancy.[1][1]–[3][2] DBA has been associated with heterozygous mutations or large deletions in ribosomal protein
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9be9f8bb6106461dfc387d96ea47573 https://hirosaki.repo.nii.ac.jp/records/5453 Zobrazit plný text záznamu