Mutations Are Not Uniformly Distributed throughout theOCRL1Gene in Lowe Syndrome Patients-Reference-Cited by-同舟云学术

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Mutations Are Not Uniformly Distributed throughout theOCRL1Gene in Lowe Syndrome Patients

Published:1998-05 Issue:1 Volume:64 Page:58-61
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lin Ti,Orrison Bonnie M.,Suchy Sharon F.,Lewis Richard Alan,Nussbaum Robert L.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference9 articles.

1. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe;Leahey;Hum Mol Genet,1993

2. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome;Lin;Am J Hum Genet,1997

3. Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: A clinical entity;Lowe;Am J Dis Child,1952

4. The Lowe oculocerebrorenal syndrome gene encodes a novel protein highly homologous to inositol polyphosphate-5-phosphatase;Attree;Nature,1992

5. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1;Nussbaum;Hum Genet,1997

Cited by 43 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes;Human Molecular Genetics;2021-01-30

2. Genotype & Phenotype in Lowe Syndrome: Specific OCRL1 patient mutations differentially impact cellular phenotypes;2020-08-05

3. Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene;Saudi Journal of Kidney Diseases and Transplantation;2020

4. “Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”;American Journal of Medical Genetics Part A;2017-12-11

5. Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome;World Journal of Pediatrics;2016-04-08

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