Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?

doi:10.1002/gepi.1370100617

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Article

Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?

Genetic epidemiology - 1 Jan 1993

Martinez M, Campion D, Babron M C, Clerget-Darpoux F

Abstract excerpt

Analysis of marker segregation in the large Alzheimer pedigree, FAD4, leads to the conclusion, with a type I error of 5%, of linkage heterogeneity between two branches of the pedigree: the disease cosegregates with chromosome 21 markers flanking the APP area in one branch and not in the other one...

Topics

Alleles
Alzheimer Disease
Boston
Chromosomes, Human, Pair 21
Female
Gene Frequency
Genetic Linkage
Genetic Markers
Genetic Variation
Humans
Italy
Male
Mutation
Pedigree

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