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Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene
BACKGROUND: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion‐dependent anemia. Most pa...
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| Publicado no: | J Clin Lab Anal |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8183902/ https://ncbi.nlm.nih.gov/pubmed/33942936 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23781 |
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