Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency-Reference-Cited by-同舟云学术

Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency

Published:1990-06 Issue:2 Volume:7 Page:167-172
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Finkelstein Janice E.,Francomano Clair A.,Brusilow Saul W.,Traystman Monica D.

Publisher

Elsevier BV

Subject

Genetics

Reference24 articles.

1. Prospective diagnosis and treatment of urea cycle disorders;Bartholomew;Pediatr. Res,1987

2. A simple method for measurement of orotic acid and orotidine;Brusilow;J. Chromatogr,1989

3. Urea cycle enzymes;Brusilow,1989

4. Allopurinol induced orotidinuria: A test of heterozygosity for ornithine transcarbamylase deficiency;Brusilow;Pediatr. Res,1987

5. Reactivity of cytosine and thymidine in single-basepair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations;Cotton,1988

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1. Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients;Clinica Chimica Acta;2020-11

2. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing;Orphanet Journal of Rare Diseases;2018-10-01

3. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH;Molecular Genetics and Metabolism;2009-03

4. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients;Journal of Human Genetics;2007-11-20

5. Biochips for Detection of DNA Mutations;Current Analytical Chemistry;2006-07-01