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

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 may carry t...

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Detalles Bibliográficos
Autores principales: Kobayashi, Akie, Ohtaka, Ryusei, Toki, Tsutomu, Hara, Junichi, Muramatsu, Hideki, Kanezaki, Rika, Takahashi, Yuka, Sato, Tomohiko, Kamio, Takuya, Kudo, Ko, Sasaki, Shinya, Yoshida, Taro, Utsugisawa, Taiju, Kanno, Hitoshi, Yoshida, Kenichi, Nannya, Yasuhito, Takahashi, Yoshiyuki, Kojima, Seiji, Miyano, Satoru, Ogawa, Seishi, Terui, Kiminori, Ito, Etsuro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175706/
https://www.ncbi.nlm.nih.gov/pubmed/35846220
http://dx.doi.org/10.1002/jha2.374

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