Article
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Molecular vision - 1 Jan 2013
Bocquet Béatrice, Marzouka Nour Al Dain, Hebrard Maxime, Manes Gaël, Sénéchal Audrey, Meunier Isabelle, Hamel Christian P
Abstract excerpt
PURPOSE: Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygosity mapping to identify the causative mutation in a series of inbred families with arRP. METHODS: arRP patients...
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