De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease

GATA1 is required for normal erythropoiesis. Exonic/intronic GATA1 mutations causes Diamond-Blackfan Anemia (DBA)-like disease. Herein, we present a case of a 5-year-old boy with anemia of unknown etiology. Whole-exome sequencing revealed a de novo GATA1 c.220 + 1G>C mutation. The reporter gene a...

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Detalles Bibliográficos
Autores principales: Liu, Shan, Pei, Kunlin, Chen, Lu, Wu, Jing, Chen, Qiuling, Zhang, Jinyan, Zhang, Hui, Wang, Chengyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950261/
https://www.ncbi.nlm.nih.gov/pubmed/36845397
http://dx.doi.org/10.3389/fgene.2023.1068923

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950261/
https://www.ncbi.nlm.nih.gov/pubmed/36845397
http://dx.doi.org/10.3389/fgene.2023.1068923

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