Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency-Reference-Cited by-同舟云学术

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Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency

Published:1997-08 Issue:4 Volume:20 Page:525-527
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Tuchman M.¹,Morizono H.²,Rajagopal B. S.¹,Plante R. J.¹,Allewell N. M.²

Affiliation:

1. ; Departments of Pediatrics and Laboratory Medicine & Pathology, Medical School; University of Minnesota; Minneapolis/St Paul Minnesota USA

2. ; Department of Biochemistry, College of Biological Sciences; University of Minnesota; Minneapolis/St Paul Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005301513465/fullpdf

Reference4 articles.

1. Mutations and polymorphisms in the human ornithine transcarbamylase gene;Tuchman;Hum Mutat,1993

2. Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum;Tuchman;Hum Mutat,1995

3. The molecular basis of ornithine transcarbamylase deficiency: modeling the human enzyme and the effects of mutations;Tuchman;J Med Genet,1995

4. Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families;Tuchman;Hum Genet,1996

Cited by 38 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 characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;Italian Journal of Pediatrics;2024-09-11

2. Revisiting the Roles of Catalytic Residues in Human Ornithine Transcarbamylase;Biochemistry;2024-06-28

3. Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry;International Journal of Neonatal Screening;2024-03-29

4. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;2023-11-24

5. Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation;Hematology;2023-10-05

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