Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1-Reference-Cited by-同舟云学术

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1

Published:2016-12-09 Issue:1 Volume:81 Page:1-10
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

M'dimegh Saoussen¹,Omezzine Asma¹,M'barek Ibtihel¹,Moussa Amira¹,Mabrouk Sameh¹,Kaarout Hayet²,Souche Geneviéve³,Chemli Jalel⁴,Aloui Sabra⁵,Aquaviva-Bourdain Cécile³,Achour Abdellatif⁶,Abroug Saoussen⁴,Bouslama Ali¹

Affiliation:

1. Biochemistry Department; Sahloul University Hospital; Sousse Tunisia

2. Internal Medicine A Department; Charles Nicolle University Hospital; Tunis Tunisia

3. Laboratory of Inborn Metabolic Diseases, Centre de Biologie Est; Hospices Civils de Lyon; Lyon France

4. Pediatric Department; Sahloul University Hospital; Sousse Tunisia

5. Nephrology Department; Fatouma Bourguiba University Hospital; Monastir Tunisia

6. Nephrology Department; Sahloul University Hospital; Sousse Tunisia

Funder

Ministère de la Santé

Ministère de l’Enseignement Supérieur, de la Recherche Scientifique et des Technologies de l'Information et de la Communication

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12178/fullpdf

Reference46 articles.

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2. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria;Amoroso;J Am Soc Nephrol,2001

3. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies;Beck;Eur J Hum Genet,2013

4. [Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases];Belhaj;Pathol Biol,2011

5. Mutations in DHDPSL are responsible for primary hyperoxaluria type III;Belostotsky;Am J Hum Genet,2010

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