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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

PURPOSE: To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). METHODS: Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS: In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, respectively. CONCLUSIONS: Two novel mutations in TULP1 were found to be associated with arRP. That they both compromise the gene product supports their pathogenicity. This gene was present in no more than 2% of a panel of 49 Spanish families affected by arRP.[1]

References

  1. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Paloma, E., Hjelmqvist, L., Bayés, M., García-Sandoval, B., Ayuso, C., Balcells, S., Gonzàlez-Duarte, R. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
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