Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia-Reference-Cited by-同舟云学术

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Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

Published:2002-03-01 Issue:4 Volume:110 Page:327-333
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Häberle J.,Pauli S.,Linnebank M.,Kleijer W.,Bakker H.,Wanders R.,Harms E.,Koch H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0686-6.pdf

Cited by 48 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. Pathogenesis and Management of Citrin Deficiency;Internal Medicine;2024

2. Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I;Frontiers in Neurology;2023-11-09

3. Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I;Frontiers in Genetics;2023-07-07

4. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants;Molecular Genetics & Genomic Medicine;2023-01-20

5. Identification of Novel Mutations in Chinese Infants With Citrullinemia;Frontiers in Genetics;2022-03-03

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