Article
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Human mutation - 1 Jan 1992
Akerman B R, Zielenski J, Triggs-Raine B L, Prence E M, Natowicz M R, Lim-Steele J S, Kaback M M, Mules E H, Thomas G H, Clarke J T
Abstract excerpt
Tay-Sachs disease (TSD) is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the alpha-subunit of the lysosomal enzyme, beta-N-acetylhexosaminidase A (Hex A). We have discovered that a Tay-Sachs mutation, IVS-9 + 1 G-->A, first detected by Akli et al. (Geno...
Topics
- Alleles
- Base Sequence
- DNA
- DNA Mutational Analysis
- Hexosaminidase A
- Humans
- Infant
- Molecular Sequence Data
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases