Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference19 articles.
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2. The 145-kDa protein induced to associate with She by multiple cytokines is an inositol tetraphosphate and phosphatidylinositol 3,4,5-triphosphate 5-phosphatase;Damen;Proc Natl Acad Sci USA,1996
3. Implication des phosphatidylinositols et de leurs produits d'hydrolyse dans la signalisation cellulaire;Krneux;Med/Sci,1995
4. The rate of spontaneous mutations of a human gene;Haldane;J Genet,1935
5. Performance evaluation of amino acid substitution matrices;Henikoff;Proteins,1993
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2. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome;Pediatric Nephrology;2024-04-08
3. Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndrome;2023-06-27
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5. Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes;Human Molecular Genetics;2021-01-30
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