Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
We studied a patient with a severe spherocytic hemolytic anemia without family history of spherocytosis. Analysis of patient's erythrocyte membrane proteins revealed spectrin deficiency and a truncated alpha spectrin protein. We determined that the patient is a compound heterozygote with two mutatio...
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| Publicado no: | J Clin Invest |
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| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1996
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507680/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8941647/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI119041 |
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