A double mutation in AGXT gene in families with primary hyperoxaluria type 1-Reference-Cited by-同舟云学术

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A double mutation in AGXT gene in families with primary hyperoxaluria type 1

Published:2013-12 Issue:2 Volume:531 Page:451-456
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Kanoun Houda,Jarraya Faiçal,Hadj Salem Ikhlass,Mahfoudh Hichem,Chaabouni Yosr,Makni Fatma,Hachicha Jamil,Fakhfakh Faiza

Funder

Tunisian Ministry of Higher Education and Scientific Research

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference27 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1;Alfadhel;Ther. Clin. Risk Manag.,2012

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

4. Is there a genotype–phenotype correlation in primary hyperoxaluria type 1?;Beck;Kidney Int.,2006

5. Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases;Belhaj;Pathol. Biol.,2009

Cited by 7 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. Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1;Kidney International Reports;2024-07

2. Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations;Molecular Genetics & Genomic Medicine;2022-06-03

3. Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations;BMC Nephrology;2017-10-02

4. Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1;Annals of Human Genetics;2016-12-09

5. Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones;Scientific Reports;2016-09

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