Article
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2012
Estrada-Cuzcano Alejandro, Koenekoop Robert K, Senechal Audrey, De Baere Elfride B W, de Ravel Thomy, Banfi Sandro, Kohl Susanne, Ayuso Carmen, Sharon Dror, Hoyng Carel B, Hamel Christian P, Leroy Bart P, Ziviello Carmela, Lopez Irma, Bazinet Alexandre, Wissinger Bernd, Sliesoraityte Ieva, Avila-Fernandez Almudena, Littink Karin W, Vingolo Enzo M, Signorini Sabrina, Banin Eyal, Mizrahi-Meissonnier Liliana, Zrenner Eberhard, Kellner Ulrich, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M, Klevering B Jeroen
Abstract excerpt
OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and...
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