Familial Mediterranean fever in Syrian patients:MEFVgene mutations and genotype–phenotype correlation
✍ Scribed by Rami A. Jarjour
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 167 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0301-4851
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Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti
Familial Mediterranean Fever (FMF) is a recessive inherited disorder affecting Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and several disease-associated mutations have been described. We have evaluated seven MEFV mutations in 460 chromosomes of 230 u