Results 131 to 138 of about 1,383 (138)

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

Genes, 2018
Ana Perdomo-Ramirez, Elena Ramos Trujillo, Felix Claverie-Martin   +2 more
exaly  

A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL

Klinische Padiatrie, 2013
Regina Betz, Detlef Bockenhauer, R C Betz   +2 more
exaly  

Clinical and laboratory features of Macedonian children with OCRL mutations

Pediatric Nephrology, 2011
Zoran Gucev, Velibor Tasic, Vladimir J Lozanovski   +2 more
exaly  

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

Nature Reviews Nephrology, 2017
Leopoldo Staiano, Francesco Emma, Maria Antonietta De Matteis   +2 more
exaly  

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

Biochemical and Biophysical Research Communications, 2008
Pietro De Camilli, Maria Antonietta De Matteis, Maria Addis   +2 more
exaly  

Novel OCRL mutations in Chinese children with Lowe syndrome

World Journal of Pediatrics, 2013
Yang Yan-Ling, Yan-Ling Yang
exaly  

The role of the Lowe syndrome protein OCRL in the endocytic pathway

Biological Chemistry, 2015
Kai Sven Erdmann
exaly  

A3 ADENOSINE RECEPTOR LIGANDS FOR USE IN THE TREATMENT OF DISEASES ASSOCIATED WITH OCRL GENE DISFUNCTION

DE MATTEIS MARIA ANTONIETTA, STAIANO LEOPOLDO, VICINANZA MARIELLA   +2 more
openaire   +1 more source