A carregar...
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
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 (Ptd...
Na minha lista:
| Main Authors: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1997
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1716142/ https://ncbi.nlm.nih.gov/pubmed/9199559 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|