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Non-deletional alpha thalassaemia: a review
BACKGROUND: Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe phenotype known as haemoglobin Bart’s, which leads to intraut...
Shranjeno v:
| izdano v: | Orphanet J Rare Dis |
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| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7322920/ https://ncbi.nlm.nih.gov/pubmed/32600445 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01429-1 |
| Oznake: |
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