Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1
✍ Scribed by R. L. Nussbaum; Bonnie M. Orrison; Pasi A. Jänne; Lawrence Charnas; A. Craig Chinault
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 76 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
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