Article
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
American journal of human genetics - 1 Jun 1997
Lin T, Orrison B M, Leahey A M, Suchy S F, Bernard D J, Lewis R A, Nussbaum R L
Abstract excerpt
The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, mental retardation, and renal Fanconi syndrome. The OCRL1 gene, which, when mutated, is responsible for OCRL, encodes a 105-kD Golgi protein with phosphatidylinositol (4,5)bisphosphate (...
Topics
- Amino Acid Sequence
- Cells, Cultured
- Conserved Sequence
- Exons
- Fibroblasts
- Frameshift Mutation
- Golgi Apparatus
- Humans
- Lymphocytes
- Male
- Molecular Sequence Data
- Mutation
- Oculocerebrorenal Syndrome
- Phosphoric Monoester Hydrolases
- Point Mutation