Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.

doi:10.1007/BF00220535

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Article

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.

Human genetics - 1 May 1992

Kilimann M W, Pizzuti A, Grompe M, Caskey C T

Abstract excerpt

About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex exon amplification. Presumably, in these cases, the deficiency is caused by minor structural lesions of the dystrophin gene. Howe...

Topics

Base Sequence
Cloning, Molecular
Dystrophin
Genetic Markers
Humans
Male
Molecular Sequence Data
Muscular Dystrophies
Mutation
Oligodeoxyribonucleotides
Polymerase Chain Reaction
Polymorphism, Genetic

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