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
Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency
✍ Scribed by José Manuel Soria; Jordi Fontcuberta; Miguel Chillón; Montserrat Borrell; Xavier Estivill; Núria Sala
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 344 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0340-6717
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