Investigation of citrullinemia type I variants by in vitro expression studies-Reference-Cited by-同舟云学术

Investigation of citrullinemia type I variants by in vitro expression studies

Published:2008-10 Issue:10 Volume:29 Page:1222-1227
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Berning Christoph,Bieger Iris,Pauli Silke,Vermeulen Tim,Vogl Thomas,Rummel Till,Höhne Wolfgang,Koch Hans Georg,Rolinski Boris,Gempel Klaus,Häberle Johannes

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. The human argininosuccinate synthetase locus and citrullinemia;Beaudet;Adv Hum Genet,1986

2. A candidate reference method for determination of total protein in serum;Doumas;I. Development and validation. Clin Chem,1981

3. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients;Gao;Hum Mutat,2003

4. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia;Häberle;Hum Genet,2002

5. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1);Häberle;Mol Genet Metab,2003

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