Article
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
Human molecular genetics - 1 Dec 1992
Fernandes M, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M, Hechtman P
Abstract excerpt
Three novel Tay--Sachs Disease (TSD) mutations have been identified in two unrelated, non-Jewish compound heterozygous patients. A G772C transversion mutation causing an Asp258His substitution is shared by both patients. The mutant enzyme had been characterized, on the basis of previous kinetic s...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Codon
- Exons
- Female
- France
- Genetic Carrier Screening
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Point Mutation
- Polymerase Chain Reaction
- Quebec
- Sequence Deletion
- Tay-Sachs Disease