Genetics and Genomics

Peter A. Kopp*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
Original languageEnglish (US)
Title of host publicationBrook's Clinical Pediatric Endocrinology
Subtitle of host publicationSixth Edition
PublisherWiley-Blackwell
Pages1-23
Number of pages23
ISBN (Print)9781405180801
DOIs
StatePublished - Jun 20 2010

Keywords

  • Congenital adrenal hyperplasia (CAH) - genetic component, major etiologic factor
  • Copy number variants (CNV) - among different populations
  • Gene expression - influenced X-inactivation and imprinting
  • Genetics - science of heredity and variation
  • Genetics and genomics
  • Glucocorticoid-remediable aldosteronism (GRA) - genes encoding aldosterone synthase (CYP11B2)
  • Non-allelic or locus heterogeneity - disease phenotype from mutations at genetic loci
  • Polymerase chain reaction (PCR) and rapid genetic testing and mutational analysis
  • Polymorphisms - distinguishing maternal and paternal chromosomes
  • Proteomics and study of proteome

ASJC Scopus subject areas

  • Medicine(all)

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