Pages that link to "Q29541275"
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The following pages link to Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes (Q29541275):
Displaying 11 items.
- Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1 (Q24624573) (← links)
- Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies (Q27012842) (← links)
- Recognition of the F&H; motif by the Lowe syndrome protein OCRL (Q27670414) (← links)
- Clinical utility gene card for: Lowe syndrome (Q36695200) (← links)
- Phosphoinositide Phosphatases: Just as Important as the Kinases (Q37992012) (← links)
- The role of phosphoinositides in synapse function (Q38220785) (← links)
- Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome (Q47890196) (← links)
- Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome (Q49100339) (← links)
- OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells (Q58117464) (← links)
- Lowe syndrome with anal atresia: A possible variant of OCRL? (Q73304084) (← links)
- From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes (Q82216059) (← links)