Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population-Reference-Cited by-同舟云学术

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population

Published:2015-11 Issue:11 Volume:19 Page:641-645
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Athanasiou Yiannis¹,Voskarides Konstantinos²,Chatzikyriakidou Anthi³,Ignatiou Anastasia²,Demosthenous Panayiota²,Elia Avraam⁴,Zavros Michalis¹,Georgiou Ioannis⁵,Pierides Alkis⁶,Deltas Constantinos²

Affiliation:

1. Department of Nephrology, Nicosia General Hospital, Nicosia, Cyprus.

2. Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.

3. Laboratory of General Biology and Genetics, Medical School, Aristotle University of Thessaloniki, Greece.

4. Department of Pediatric/Pediatric Nephrology, Archbishop Makarios III Hospital, Nicosia, Cyprus.

5. Laboratory of Medical Genetics, Medical School, Ioannina University, Greece.

6. Department of Nephrology, Hippocrateon Hospital, Nicosia, Cyprus.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2015.0144

Reference17 articles.

1. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

2. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

3. Identification of Novel Cystinuria Mutations and Polymorphisms in SLC3A1 and SLC7A9 Genes: Absence of SLC7A10 Gene Mutations in Cystinuric Patients

4. Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers

5. Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers: A Need for a New Classification

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