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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Physiol
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2019
Aiheet:
Physiology
Linkit: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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