Novel OCRL mutations in patients with Dent-2 disease

Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the OCRL gene, which also causes Lowe oculocerebrorenal synd...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Böckenhauer, Detlef, Bökenkamp, Arend, Nuutinen, Matti, Unwin, Robert, van't Hoff, William, Sirimanna, Tony, Vrljicak, Kristina, Ludwig, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020915/
https://ncbi.nlm.nih.gov/pubmed/27625797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-005
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