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. 2020 Mar 23;99(5):955–962. doi: 10.1007/s00277-020-03986-8

Table 1.

Genes included in our panel and related phenotypes

Phenotype Genes included in the panel
Membrane defects SPTA1, SPTB, ANK1, EPB42, SLC4A1, EPB41, ADD2, GYPC/D, EPB72, PIEZO1, KCNN4, RHAG, ATP11C
Enzyme defects G6PD, PKLR, GPI, HK1, PFKM/, PFKL, TPI1, PGK1, GSR, GSS, GCLC, UMPH1, AK1, ALDOA
Congenital dyserythropoietic anemia PARP4, SEC23B, KLF1, CDAN1A, C15ORF41, KIF23, GATA1, ALAS2