Method for the diagnosis of CADASIL

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 912, 536 231, 536 243, 536 2433, C12Q 168, C12P 1934, C07H 2102, C07H 2104

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056164629

ABSTRACT:
Genotypic diagnosis of CADASIL for symptomatic or at risk individuals or fetuses belonging to a family suspected of being affected by CADASIL is carried out by detecting DNA polymorphisms genetically linked to the mutated gene responsible for CADASIL, these DNA polymorphisms being located in the genetic interval of the chromosome 19 flanked by the microsatellites D198221 and D19S215 and including these microsatellites.

REFERENCES:
Joutel et al. Nature Genetics 5(1): 40-45 1993.
Bousser et al. Stroke 25: 704-707 1993.
Olsson, Brain Pathology 4: 101-103 1994.
Hovatta et al. Genomics 23: 707-709 1994.
Joutel et al. Am. J. Hum. Genet. 55:1166-1172 1994.
Sabbadini et al. Brain 118: 207-215 1995.
Verin et al. Neurology 44: A288 1994.
Tournier-Lasserve et al., Nature Genetics 3:256-259 1993.
Joutel et al, Am. J. Human Genetics, 55:1166-1172, 1994. Genetic Heterogeneity of Familial Hemiplegic Migraine.
Tournier-Lasserve et al, Stroke 22:1297-1302*, 1991.

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