The Spectrum of SPTA1-Associated Hereditary Spherocytosis

Hereditary spherocytosis (HS) is the most common red blood cell (RBC) membrane disorder causing hereditary hemolytic anemia. Patients with HS have defects in the genes coding for ankyrin (ANK1), band 3 (SLC4A1), protein 4.2 (EPB42), and α (SPTA1) or β-spectrin (SPTB). Severe recessive HS is most com...

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Detalles Bibliográficos
Autores principales: Chonat, Satheesh, Risinger, Mary, Sakthivel, Haripriya, Niss, Omar, Rothman, Jennifer A., Hsieh, Loan, Chou, Stella T., Kwiatkowski, Janet L., Khandros, Eugene, Gorman, Matthew F., Wells, Donald T., Maghathe, Tamara, Dagaonkar, Neha, Seu, Katie G., Zhang, Kejian, Zhang, Wenying, Kalfa, Theodosia A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617536/
https://www.ncbi.nlm.nih.gov/pubmed/31333484
http://dx.doi.org/10.3389/fphys.2019.00815

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