A NovelCOL4A3Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family-Reference-Cited by-同舟云学术

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A NovelCOL4A3Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Published:2013-03 Issue:3 Volume:17 Page:260-264
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Uzak Asli Subasioglu¹,Tokgoz Bulent²,Dundar Munis¹,Tekin Mustafa³⁴⁵

Affiliation:

1. Department of Medical Genetics, Erciyes University School of Medicine, Kayseri, Turkey.

2. Department of Nephrology, Erciyes University School of Medicine, Kayseri, Turkey.

3. John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.

4. Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida.

5. Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2012.0340

Reference31 articles.

1. HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS

2. Mutations in theCOL4A4andCOL4A3Genes Cause Familial Benign Hematuria

3. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

4. Ocular manifestations of autosomal recessive Alport syndrome

5. Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.

Cited by 10 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. Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports;Medicine;2023-11-17

2. A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome;Molecular Syndromology;2023-10-16

3. Genome-Wide Analysis of Differentially Expressed miRNAs and Their Associated Regulatory Networks in Lenses Deficient for the Congenital Cataract-Linked Tudor Domain Containing Protein TDRD7;Frontiers in Cell and Developmental Biology;2021-02-16

4. A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family;Molecular Genetics & Genomic Medicine;2019-06-18

5. A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family;Disease Markers;2019-02-10

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