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  • Gert Van Goethem, Marianne Schwartz, Ann Löfgren, Bart Dermaut, Christine Van Broeckhoven, John Vissing
  • Medicine, Biology
  • European Journal of Human Genetics
  • 2003 (First Publication: 1 July 2003)
  • Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated with multiple mitochondrial DNA deletions and can be caused by missense mutations in POLG, the geneContinue Reading
  • Annette Mouritsen, Niels Jørgensen, Katharina Maria Main, Marianne Schwartz, Anders Juul
  • Medicine, Biology
  • International journal of andrology
  • 2009 (First Publication: 15 June 2009)
  • Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with impaired function of the adrenal cortex caused by mutations in the CYP21A2 gene. Deficiency of steroid 21-hydroxylaseContinue Reading
  • Karina Meden Sørensen, Paal Skytt Andersen, Lars A Larsen, Marianne Schwartz, Jan P. Schouten, Anders Olof Herman Nygren
  • Chemistry, Medicine
  • Analytical chemistry
  • 2008 (First Publication: 1 December 2008)
  • The multiplex ligation-dependent probe amplification (MLPA) technique is a sensitive technique for relative quantification of up to 50 different nucleic acid sequences in a single reaction, and theContinue Reading