The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia

Variants in the solute carrier family 40 member 1 (SLC40A1) gene are the molecular basis of ferroportin disease, which is an autosomal dominant hereditary hemochromatosis. Here, we present a patient with pure red cell aplasia (PRCA) and large granular lymphocytic leukemia (LGLL) associated with an e...

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Detalles Bibliográficos
Autores principales: Wu, Hongfei, Ren, Xiang, Ge, Meili, Dong, Peiyuan, Wang, Shichong, Yi, Huiming, Li, Xingxin, Huo, Jiali, Zheng, Xuan, Gao, Mengying, Huang, Jinbo, Zhang, Jing, Wang, Min, Jin, Peng, Nie, Neng, Shao, Yingqi, Zheng, Yizhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8975084/
https://www.ncbi.nlm.nih.gov/pubmed/35399544
http://dx.doi.org/10.1097/BS9.0000000000000099

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