- Abstract:
-
A single base-pair mutation (beta s) in codon 6 of the human beta-globin gene, causing a single amino-acid substitution, is the cause of sickle cell anaemia. The mutant haemoglobin molecule, HbS, polymerizes when deoxygenated and causes deformation of the erythrocytes to a characteristic 'sickled' shape. Sickling of cells in small vessels causes painful crises and other life-threatening complications. Although the molecular basis for sickle cell anaemia has been known for 30 years, no definit...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1038/343183a0
-
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- Journal:
- Nature
- Volume:
- 343
- Issue:
- 6254
- Pages:
- 183-185
- Publication date:
- 1990-01-05
- DOI:
- EISSN:
-
1476-4687
- ISSN:
-
0028-0836
- URN:
-
uuid:3302dd47-aceb-464a-9729-24898e110ada
- Source identifiers:
-
20665
- Local pid:
- pubs:20665
- Language:
- English
- Keywords:
- Copyright date:
- 1990
Journal article
A transgenic mouse model of sickle cell disorder.
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