NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study-Reference-Cited by-同舟云学术

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NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study

Published:2016-02-03 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Wen Wei,Yin Dan,Huang Fangfang,Guo Meng,Tian Tian,Zhu Hui,Yang Yun

Funder

Shenzhen Technological Innovation Plan-Technology Development Project

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0273-7

Reference11 articles.

1. Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, et al. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab. 2008;94:397–402.

2. Maestri NE, Clissold D, Brusilow SW. Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr. 1999;134:268–72.

3. Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med Genet. 2011;157C:45–53.

4. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, et al. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007;28:694–702.

5. Chen BC, Ngu LH, Zabedah MY. Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. Malays J Pathol. 2010;32:87–95.

Cited by 5 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. Clinical and genetic analysis of five Chinese patients with urea cycle disorders;Molecular Genetics & Genomic Medicine;2020-05-15

2. Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay;Frontiers in Genetics;2019-05-17

3. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency;BioMed Research International;2019-04-30

4. Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options;Biochemical Genetics;2017-11-01

5. Liver involvement in urea cycle disorders: a review of the literature;Journal of Inherited Metabolic Disease;2017-09-12

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