Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene-Reference-Cited by-同舟云学术

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Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene

Published:1999-07-16 Issue:6 Volume:104 Page:523-525
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Pirulli Doroti,Puzzer Daniela,Ferri Laura,Crovella Sergio,Amoroso A.,Ferrettini Cristina,Marangella Martino,Mazzola Gina,Florian Fiorella

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050998.pdf

Cited by 39 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. Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I;Genetic Testing and Molecular Biomarkers;2024-04-01

2. Mutation Analysis of the AGXT Gene in Combined Liver-Kidney and Isolated Liver Transplanted Children for Primary Hyperoxaluria Type 1: a Single Center Experience;Turkish Journal of Nephrology;2022-10-13

3. 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

4. Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease;Journal of Nephrology;2022-02-26

5. Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation;BMC Nephrology;2017-06-15

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