More than 200 Wilson disease (WD) disease-causing mutations have been defined to date. Missense mutations are largely prevalent while splice-site mutations are limited in number. Most reside in the splice donor or acceptor sites and only a minority are detected in splicing consensus sequences. Furth
✦ LIBER ✦
Metabolism of Structurally Abnormal mRNAs Resulting from β-Thalassemia Mutations
✍ Scribed by EDWARD J. BENZ JR.; KENICHI TAKESHITA; ALPHONSE L. SCARPA
- Book ID
- 118722346
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 1014 KB
- Volume
- 445
- Category
- Article
- ISSN
- 0890-6564
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We describe in a Japanese family beta zero-thalassemia resulting from a compound heterozygosity for a beta-globin gene mutation. One mutation is a C-to-T transition at IVS-2 nucleotide position 654 on the background of Mediterranean haplotype IX. Another mutation is a G-to-A transition at IVS-2 nucl