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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Dades bibliogràfiques
Publicat a:Front Physiol
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Physiology
Accés en línia: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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