Testing environment for single-gene disorders in U.S. reference laboratories.

doi:10.1002/(SICI)1098-1004(1998)12:5<293::AID-HUMU1>3.0.CO;2-F

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Article

Testing environment for single-gene disorders in U.S. reference laboratories.

Human mutation - 1 Jan 1998

Amos J, Gold B

Abstract excerpt

Molecular diagnosis is the detection of pathogenic mutations in DNA and RNA samples prepared from at-risk patients. Principles underlying DNA-based diagnosis originate from localization and identification of genes responsible for human disease and the characterization of pathogenic mutations; new...

Topics

Genetic Counseling
Genetic Testing
Genetics, Medical
Humans
Laboratories
Mutation
United States

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