All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral cataracts, mental retardation, neonatal hypotonia, and renal Fanconi syndrome, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: McCrea, Heather J., Paradise, Summer, Tomasini, Livia, Addis, Maria, Melis, Maria Antonietta, De Matteis, Maria Antonietta, De Camilli, Pietro
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2008
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2442618/
https://ncbi.nlm.nih.gov/pubmed/18307981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2008.02.067
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller