𝔖 Bobbio Scriptorium
✦   LIBER   ✦

OCRL1mutations in patients with Dent disease phenotype in Japan

✍ Scribed by Takashi Sekine; Kandai Nozu; Rashmi Iyengar; Xue Jun Fu; Masafumi Matsuo; Ryojiro Tanaka; Kazumoto Iijima; Emiko Matsui; Yutaka Harita; Jun Inatomi; Takashi Igarashi


Publisher
Springer
Year
2007
Tongue
English
Weight
210 KB
Volume
22
Category
Article
ISSN
0931-041X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


From lowe syndrome to Dent disease: corr
✍ Haifa Hichri; John Rendu; Nicole Monnier; Charles Coutton; Olivier Dorseuil; Ros πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 320 KB

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

Phenotype of disease in three patients w
✍ Ana Maria Crane; Laura S. Martin; David Valle; Fred D. Ledley πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 736 KB

We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective,