Article
Novel Tay-Sachs disease mutations from China.
Human mutation - 1 Jan 1992
Akalin N, Shi H P, Vavougios G, Hechtman P, Lo W, Scriver C R, Mahuran D, Kaplan F
Abstract excerpt
We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families. Novel mutations were found in two of these families. The third is a previously reported mutation (G-->A transition at nt 1444) (Nakano et al., 1988). Direct se...
Topics
- Animals
- Base Sequence
- Cell Line
- China
- Chlorocebus aethiops
- Cloning, Molecular
- DNA
- Female
- Fetus
- Fibroblasts
- Hexosaminidase A
- Humans
- Kidney