Article
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Investigative ophthalmology & visual science - 1 Mar 2009
Grønskov Karen, Ek Jakob, Sand Annie, Scheller Rudolf, Bygum Anette, Brixen Kim, Brondum-Nielsen Karen, Rosenberg Thomas
Abstract excerpt
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...
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