Article
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
American journal of human genetics - 1 Nov 1996
Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg O N
Abstract excerpt
Mutation analysis was performed in eight families (16 patients) with glutaric aciduria type I (GA-I), which were all the families diagnosed in Israel in the years 1987-1994. Six families were of Moslem origin and two were non-Ashkenazi Jews. The entire coding region of the cDNA of the glutaryl-Co...
Topics
- Adult
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Arabs
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Glutaryl-CoA Dehydrogenase
- Humans
- Infant
- Israel
- Jews
- Male
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Pedigree
- Point Mutation