Article
Prenatal diagnosis of inherited hemoglobinopathies.
Recenti progressi in medicina - 1 Apr 1992
Cao A, Leoni G B, Sardu R, Pischedda M C, Saba L
Abstract excerpt
This paper reviews the techniques presently available for the prenatal diagnosis of inherited hemoglobinopathies. At the present time, mutations of the globin genes are detected directly in trophoblast DNA, enzymatically amplified by polymerase chain reaction. Known mutations may be defined by restriction endonuclease digestion, non denaturing gradient gel electrophoresis, allele specific oligonucleotide probes...
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