Article
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.
Human genetics - 1 Oct 1993
Vanier M T, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K, Suzuki K
Abstract excerpt
There is a high incidence of Niemann-Pick type B disease in the Maghreb region of North Africa, which includes Morocco, Algeria and Tunisia. A hypothesis that there may well be a common, predominant mutant acid sphingomyelinase allele responsible for the type B phenotype in this population has be...
Topics
- Adolescent
- Adult
- Africa, Northern
- Alleles
- Arginine
- Base Sequence
- Cells, Cultured
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Codon
- DNA
- Fibroblasts
- Humans
- Infant
- Molecular Sequence Data