Detection of point mutations associated with genetic diseases by an exon scanning technique.

doi:10.1016/0888-7543(90)90252-p

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Article

Detection of point mutations associated with genetic diseases by an exon scanning technique.

Genomics - 1 Dec 1990

Kaufman D L, Ramesh V, McClatchey A I, Menkes J H, Tobin A J

Abstract excerpt

A major challenge in genetics is identifying the basis of human heritable disease. We describe an "exon scanning" technique which surveys exons in genomic DNA for sequence alterations. By hybridizing genomic DNA to RNA probes derived from cDNAs, we can use RNase A to survey entire coding regions,...

Topics

Base Sequence
Exons
Genetic Techniques
Globins
Gyrate Atrophy
Hemoglobinopathies
Humans
Mutation
Ornithine-Oxo-Acid Transaminase
Polymerase Chain Reaction
Polymorphism, Genetic
RNA Probes
Ribonuclease, Pancreatic

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