Intragenic Complementation at the Human Argininosuccinate Lyase Locus-Reference-Cited by-同舟云学术

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Intragenic Complementation at the Human Argininosuccinate Lyase Locus

Published:1997-03 Issue:10 Volume:272 Page:6777-6783
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Walker David C.,Christodoulou John,Craig Hugh J.,Simard Louise R.,Ploder Lynda,Howell P. Lynne,McInnes Roderick R.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference37 articles.

1. The Metabolic Basis of Inherited Disease;Brusilow,1995

2. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.

3. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.

4. Biosynthesis of Urea

Cited by 28 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. To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening;Clinical Dysmorphology;2023-10-13

2. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria;Human Mutation;2020-01-30

3. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects;Journal of Inherited Metabolic Disease;2019-02-05

4. A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria;European Journal of Medical Genetics;2018-06

5. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria;Journal of Inherited Metabolic Disease;2015-03-17

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