Point mutations in the dystrophin gene.

doi:10.1073/pnas.89.6.2331

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Article

Point mutations in the dystrophin gene.

Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 1992

Roberts R G, Bobrow M, Bentley D R

Abstract excerpt

Defining the range of mutations in genes that cause human disease is essential to determine the mechanisms of genetic variation and the function of gene domains and to perform precise carrier and prenatal diagnosis. The mutations in one-third of Duchenne muscular dystrophy patients remain unknown...

Topics

Adolescent
Base Sequence
Child
Chromosome Deletion
Dystrophin
Female
Genetic Variation
Humans
Lymphocytes
Male
Molecular Sequence Data
Muscular Dystrophies
Mutation
Pedigree
Polymerase Chain Reaction
RNA, Messenger
Transcription, Genetic

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