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
Publicado en:Front Physiol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2019
Assuntos:
Physiology
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6617536/
https://ncbi.nlm.nih.gov/pubmed/31333484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2019.00815
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