Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden

Author:

Golovleva Irina,Köhn Linda,Burstedt Marie,Daiger Stephen,Sandgren Ola

Publisher

Springer New York

Reference14 articles.

1. Abu-Safieh L, Vithana EN, Mantel I et al (2006) A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis 12:384–388

2. Al-Maghtheh M, Inglehearn CF, Keen TJ et al (1994) Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 3:351–354

3. Burstedt MSI, Forsman-Semb K, Golovleva I et al (2001) Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an P.R234Wmutation in the RLBP1 gene. Arch Ophthalmol 119:260–267

4. Burstedt MSI, Sandgren O, Holmgren G et al (1999) Bothnia dystrophy caused by mutation in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Visl Sci 40:995–1000

5. Humbert G, Delettre C, Senechal A et al (2006) Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci 47:4719–4724

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