Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2000.580609.x/fullpdf
Reference20 articles.
1. The Lowe oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase;Atree;Nature,1992
2. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1;Nussbaum;Hum Genet,1997
3. Lowe syndrome, a deficiency of a phosphatidyl inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus;Suchy;Hum Mol Genet,1995
4. The protein deficient in Lowe syndrome in a phosphatidylinositol 4,5-bisphosphatase;Zhang;Proc Natl Acad Sci USA,1995
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1. Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2023-12
2. Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome;Molecular Genetics & Genomic Medicine;2019-08-03
3. Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells;Molecular Autism;2018-08-15
4. Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis;Scientific Reports;2017-05-04
5. Lowe Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
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