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Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin
Previously, we reported a new missense mutation in the ANK1 gene that correlated with the hereditary spherocytosis phenotype. This mutation, resulting in L1340P substitution (HGMD CM149731), likely leads to the changes in the conformation of the ankyrin ZZUD domain important for ankyrin binding to s...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864249/ https://www.ncbi.nlm.nih.gov/pubmed/36676098 http://dx.doi.org/10.3390/life13010151 |