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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

✍ Scribed by Cremers, Frans P.M.; den Hollander, Anneke I.; ten Brink, Jacoline B.; de Kok, Yvette J.M.; van Soest, Simone; van den Born, L. Ingeborgh; van Driel, Marc A.; van de Pol, Dorien J.R.; Payne, Annette M.; Bhattacharya, Shomi S.; Kellner, Ulrich; Hoyng, Carel B.; Westerveld, Andries; Brunner, Han G.; Bleeker-Wagemakers, Elisabeth M.; Deutman, August F.; Heckenlively, John R.; Bergen, Arthur A.B.


Book ID
109515968
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
561 KB
Volume
23
Category
Article
ISSN
1061-4036

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Identification of novel RP2 mutations in
✍ Maria Giuseppina Miano; Francesco Testa; Francesco Filippini; MariajosΓ¨ Trujillo πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 374 KB

X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. Clinically there is no clearly signifi