Jul 18, 2017
Spectrin alpha, erythrocytic 1
The SPTA1 gene codes for spectrin, which is a part of the red blood cell membrane and important in determining its shape (Knowles et al., 1984).
A change in this gene was identified in a UDN participant.
Of note: Spectrin staining and blood smears were normal. Additionally, the protein coded for by this gene was not found to be defective.
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