A novel SLC4A1 splice variant (c.2655+2_2655+3 del) in hereditary spherocytosis

Int J Lab Hematol. 2021 Oct;43(5):e242-e243. doi: 10.1111/ijlh.13458. Epub 2021 Jan 20.

Authors

Elias D Kima¹, Emiliano N Mugnaini^{1

2}, Victor E Nava^{1

2}

Affiliations

¹ Veterans Affairs Medical Center, Washington, DC, USA.
² George Washington University, Washington, DC, USA.

PMID: 33470548
DOI: 10.1111/ijlh.13458

No abstract available

Keywords: anemia; hereditary spherocytosis; next-generation sequencing; novel splice variant.

Publication types

Letter
Comment

MeSH terms

Anion Exchange Protein 1, Erythrocyte / genetics
Humans
Mutation
Spherocytosis, Hereditary* / genetics

Substances

Anion Exchange Protein 1, Erythrocyte
SLC4A1 protein, human