Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review-Reference-Cited by-同舟云学术

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Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review

Published:2018-10 Issue:5 Volume:38 Page:749-757
ISSN:2096-5230
Container-title:Current Medical Science
language:en
Short-container-title:CURR MED SCI

Author:

Du Dun-feng,Li Qian-qian,Chen Chen,Shi Shu-mei,Zhao Yuan-yuan,Jiang Ji-pin,Wang Dao-wen,Guo Hui,Zhang Wei-jie,Chen Zhi-shui

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biochemistry

Link

http://link.springer.com/article/10.1007/s11596-018-1941-y/fulltext.html

Reference21 articles.

1. Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol, 2012,8(8):467–475

2. Hopp K, Cogal AG, Bergstralh EJ, et al. Phenotypegenotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol, 2015,26(10):2559–2570

3. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med, 2013,369(7):649–658

4. Purdue PE, Lumb MJ, Fox M, et al. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics, 1991,10(1):34–42

5. Pelle A, Cuccurullo A, Mancini C, et al. Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. J Nephrol, 2017,30(2):219–225

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4. Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients;Frontiers in Genetics;2023-04-17

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