Regulatory mutations and human genetic disease.

doi:10.3109/07853899209166991

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Article

Regulatory mutations and human genetic disease.

Annals of medicine - 1 Dec 1992

Cooper D N

Abstract excerpt

Mutations in gene promoter/regulatory regions represent an important class of lesion causing human genetic disease. Such mutations are associated with either increases or decreases in transcriptional activity mediated by the altered binding behaviour of trans-acting protein factors to specific DN...

Topics

Base Sequence
Female
Fetal Hemoglobin
Genetic Diseases, Inborn
Humans
Male
Molecular Sequence Data
Mutation
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic

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