We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res
Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron 2
β Scribed by Manuela Santarosa; Alessandra Viel; Mauro Boiocchi
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 150 KB
- Volume
- 26
- Category
- Article
- ISSN
- 1045-2257
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