Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond‐Blackfan anaemia

Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond‐Blackfan anaemia

Abstract Diamond‐Blackfan anaemia (DBA) shares clinical features with two recently reported sporadic cases of dyserythropoietic anaemia with a cryptic GATA1 splicing mutation (c.871‐24 C>T). We hypothesized that some patients clinically diagnosed with DBA but whose causative genes were unknown ma...

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Bibliographic Details
Main Authors: Akie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, Junichi Hara, Hideki Muramatsu, Rika Kanezaki, Yuka Takahashi, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Taro Yoshida, Taiju Utsugisawa, Hitoshi Kanno, Kenichi Yoshida, Yasuhito Nannya, Yoshiyuki Takahashi, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Kiminori Terui, Etsuro Ito
Format: Article
Language:English
Published: Wiley 2022-02-01
Series:eJHaem
Subjects:
Diamond‐Blackfan anaemia (DBA)
dyserythropoietic anaemia
GATA1
inherited bone marrow failure syndrome (IBMFS)
intronic mutation
Online Access:https://doi.org/10.1002/jha2.374

Internet

https://doi.org/10.1002/jha2.374

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