Diagnosis of Human Heritable Defects by Recombinant DNA Methods

Recombinant DNA methods provide highly sensitive means for the detection of DNA alterations that lead to human disease mutations. In this paper I shall illustrate the approaches currently available and discuss new technologies that show promise of replacing the present methods. Medical diagnosis by...

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Veröffentlicht in:	Philosophical transactions of the Royal Society of London. Series B, Biological sciences Biological sciences, 1988-06, Vol.319 (1194), p.353-360
Hauptverfasser:	Caskey, C. T., Gibbs, R. A., Witkowski, J. A., Hejtmancik, J. F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biological and medical sciences Complementary DNA DNA DNA, Recombinant Duchenne muscular dystrophy Female General aspects. Genetic counseling Genetic Diseases, Inborn - diagnosis Genetic Engineering - methods Genetic loci Genetic mutation Genetic Techniques Humans Medical genetics Medical sciences Mutation Polymerase chain reaction Pregnancy Prenatal Diagnosis Recombinant DNA RNA probes
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Beschreibung
Zusammenfassung:	Recombinant DNA methods provide highly sensitive means for the detection of DNA alterations that lead to human disease mutations. In this paper I shall illustrate the approaches currently available and discuss new technologies that show promise of replacing the present methods. Medical diagnosis by means of recombinant DNA methods has an expanding role in clinical medicine.
ISSN:	0962-8436 0080-4622 1471-2970 2054-0280
DOI:	10.1098/rstb.1988.0056