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Articles (12)

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1-10 of 12 results for COL4A5 gene

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Select article: Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

Open access

Case report

First published 2012

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León [...]

Clinical Medicine Insights: Pediatrics

Select article: Correlation Between mRNA Expression Level of the Mutant COL4A5 Gene and Phenotypes of XLAS Females

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Other

First published 2007-5

Correlation Between mRNA Expression Level of the Mutant COL4A5 Gene and Phenotypes of XLAS Females

Yunfeng Wang, Hongwen Zhang, Jie Ding [...]

Experimental Biology and Medicine

Select article: A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report

Open access

Case report

First published 2024

A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report

Teresa Trinka, Mohammed Faizan

Sage Open Medical Case Reports

Select article: Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study

Retricted access

Research article

First published 2023-09

Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study

Neha Shukla, Shivani Kumari, Poornima Verma [...]

DNA and Cell Biology

Select article: A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing

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Research article

First published 2016-04

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing

Chen Chen, Chao-Xia Lu, Qiong Wang [...]

Genetic Testing and Molecular Biomarkers

Select article: Prenatal Diagnosis and Genetic Counseling of a Chinese Alport Syndrome Kindred

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Research article

First published 2008-03

Prenatal Diagnosis and Genetic Counseling of a Chinese Alport Syndrome Kindred

Hongwen Zhang, Jie Ding, Fang Wang [...]

Genetic Testing and Molecular Biomarkers

Select article: Heterozygous X-linked Alport syndrome in a pregnant woman: A case report

Open access

Case report

First published 2026

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report

Caroline Gee, Matthew D. Nguyen, Dao Le [...]

Sage Open Medical Case Reports

Select article: Temporal Transcriptomics Leads From Discovery to in Vivo Validation: COL4A3/COL4A6/ COL4A5 and ITGA8 as Novel Arthrofibrosis Biomarkers in Post-traumatic Joint Contracture

Open access

Research article

First published 2026-1

Temporal Transcriptomics Leads From Discovery to in Vivo Validation: COL4A3/COL4A6/ COL4A5 and ITGA8 as Novel Arthrofibrosis Biomarkers in Post-traumatic Joint Contracture

Yijia Wang, Hong Zeng, Zilin Li [...]

Dose-Response

Select article: Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report

Retricted access

Case report

First published 2021-7

Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report

Iva Krolo, Aida Kasumović, Ivana Radman [...]

European Journal of Ophthalmology

Select article: A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

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Research article

First published 2013-03

A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Asli Subasioglu Uzak, Bulent Tokgoz, Munis Dundar [...]

Genetic Testing and Molecular Biomarkers

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