An Israeli-Bedouin infant from a consanguineous family was diagnosed with Tay-Sachs disease (TSD). The patient was found to carry the novel +3tIVS4 mutation in homozygosity. Direct sequencing of the cDNA showed that the +3tIVS4 mutation caused complete skipping of exon 4 resulting in a stop codon 17
A novel mutation, Y103X, and exon skipping in a patient with Hunter disease
โ Scribed by Gloria Bonuccelli; Mirella Filocamo; Stefano Regis; Fabio Corsolini; Raffaella Mazzotti; Rosanna Gatti
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 13 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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