COL4A3Founder Mutations in Greek-Cypriot Families with Thin Basement Membrane Nephropathy and Focal Segmental Glomerulosclerosis Dating from Around 18th Century-Reference-Cited by-同舟云学术

COL4A3Founder Mutations in Greek-Cypriot Families with Thin Basement Membrane Nephropathy and Focal Segmental Glomerulosclerosis Dating from Around 18th Century

Published:2008-06 Issue:2 Volume:12 Page:273-278
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Voskarides Konstantinos¹,Patsias Charalampos²,Pierides Alkis³,Deltas Constantinos¹⁴

Affiliation:

1. Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.

2. Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus.

3. Hippokration Private Hospital, Nicosia, Cyprus.

4. The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0110

Reference27 articles.

1. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

2. Measuring the strength of associations between HLA antigens and diseases

3. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

4. MSH2 c.1452–1455delAATG Is a Founder Mutation and an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Southern Chinese Population

5. Identification of a new mutation in the α4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia

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