Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency-Reference-Cited by-同舟云学术

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Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

Published:2008-07 Issue:3 Volume:94 Page:292-297
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Engel Katharina,Nuoffer Jean-Marc,Mühlhausen Chris,Klaus Vera,Largiadèr Carlo R.,Tsiakas Konstantinos,Santer René,Wermuth Bendicht,Häberle Johannes

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference13 articles.

1. Urea cycle disorders: diagnosis, pathophysiology, and therapy;Brusilow;Adv. Pediatr.,1996

2. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype;McCullough;Am. J. Med. Genet.,2000

3. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene;Yamaguchi;Hum. Mutat.,2006

4. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase;Horwich;Science,1984

5. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression;Shapiro;Nucleic Acids Res.,1987

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