Article
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)
American journal of human genetics - 1 Sept 1991
Bakker E, van Broeckhoven C, Haan J, Voorhoeve E, van Hul W, Levy E, Lieberburg I, Carman M D, van Ommen G J, Frangione B
Abstract excerpt
Hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D) is tightly linked to the Alzheimer amyloid precursor protein gene on chromosome 21, which codes for the amyloid beta-protein. A point mutation detected at position 1852 of the amyloid precursor protein gene in four HCHWA-D patients was hypothesized to be the basic defect. This study proves that 22 HCHWA-D patients from three pedigrees all...
Topics
- Aged
- Amyloid beta-Peptides
- Amyloid beta-Protein Precursor
- Amyloidosis
- Base Sequence
- Cerebral Hemorrhage
- Chromosomes, Human, Pair 21
- Female
- Humans
- Male
- Molecular Sequence Data