Article
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.
The Journal of clinical investigation - 1 Nov 1990
Wang A M, Schindler D, Desnick R
Abstract excerpt
Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent isolation and expression of the full-length cDNA encoding alpha-GalNAc facilitated the identification of the molecular lesions in the affected brothers from family D, the first cases described with this autosomal...
Topics
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Cell Line
- Genes, Recessive
- Hexosaminidases
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation