Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

  title={Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.},
  author={K. Gr{\o}nskov and J. Ek and A. Sand and R. Scheller and A. Bygum and K. Brixen and K. Br{\o}ndum‐Nielsen and T. Rosenberg},
  journal={Investigative ophthalmology & visual science},
  volume={50 3},
  • K. Grønskov, J. Ek, +5 authors T. Rosenberg
  • Published 2009
  • Medicine
  • Investigative ophthalmology & visual science
  • PURPOSE The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients. Furthermore, 15 patients were investigated for mutations in SLC24A5. Allele expression was investigated in heterozygous patients by RT-PCR analysis. The birth prevalence was calculated based on… CONTINUE READING
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