Molecular diagnosis of haemoglobin disorders
β Scribed by B. E. Clark; S. L. Thein
- Book ID
- 108701604
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 588 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1751-5521
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π SIMILAR VOLUMES
The most common Hb D variant, Haemoglobin D (Hb D) Los Angeles is caused by a glutamic acid to glutamine substitution at codon 121 of the globin gene. Although asymptomatic in the heterozygous form, inheritance together with an Hb S allele can result in a severe disease similar to sickle-cell anaemi
## Abstract This review is designed to provide practical help for the clinical neurologist to make appropriate use of the possibilities of molecular diagnosis of inherited movement disorders. Huntington's disease, Parkinson's disease and parkinsonian syndromes, ataxias, Wilson disease, essential tr