Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.
We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C was sharply reduced...
Sábháilte in:
| Foilsithe in: | J Clin Invest |
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| Príomhchruthaitheoirí: | , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
American Society for Clinical Investigation
1992
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| Ábhair: | |
| Rochtain ar líne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443228/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1430200/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116044 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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