Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable.

doi:10.1002/ajmg.1320520121

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Article

Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable.

American journal of medical genetics - 1 Aug 1994

Curnow R N

Abstract excerpt

The number of recessive diseases, such as cystic fibrosis, in which some but not all of the mutations causing the disease can be detected using genetic probes, is certain to increase. For counselling purposes, the probability that a consultand known not to have a detectable mutation is neverthele...

Topics

Alleles
Genes, Recessive
Genetic Counseling
Genetic Diseases, Inborn
Heterozygote
Humans
Mutation
Probability
Risk

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