Article
Heterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosis.
Neuropediatrics - 1 Apr 1992
Whitley C B, Anderson R A, McIvor R S
Abstract excerpt
A new patient having clinical, pathologic and biochemical features of the exceedingly rate B1 variant of GM2-gangliosidosis is described. This patient, of northern European (non-Ashkenazi) ancestry, is the first affected child of this ethnic background available for molecular genetic analysis; th...
Topics
- Alleles
- Biopsy, Needle
- Child, Preschool
- Female
- Genetic Carrier Screening
- Humans
- Inclusion Bodies
- Liver
- Mutation
- Peripheral Nerves
- Polymerase Chain Reaction
- Rectum
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases