A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man

BACKGROUND: X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. METHODS: A two-generation Chinese fami...

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Detalles Bibliográficos
Autores principales: Huang, Jinbo, Ge, Meili, Shao, Yingqi, Wang, Min, Jin, Peng, Huo, Jiali, Li, Xingxin, Zhang, Jing, Nie, Neng, Zheng, Yizhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048311/
https://www.ncbi.nlm.nih.gov/pubmed/33858445
http://dx.doi.org/10.1186/s12920-021-00950-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048311/
https://www.ncbi.nlm.nih.gov/pubmed/33858445
http://dx.doi.org/10.1186/s12920-021-00950-x

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