Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

Item
http://www.wikidata.org/entity/Q28115487
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemiaArgininosuccinate synthase: at the center of arginine metabolismHeterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloningBiased exon/intron distribution of cryptic and de novo 3' splice sitesType II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantationSlc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaA search for the primary abnormality in adult-onset type II citrullinemia.Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.Splicing in Caenorhabditis elegans does not require an AG at the 3' splice acceptor site.Argininosuccinate synthetase 1 depletion produces a metabolic state conducive to herpes simplex virus 1 infection.The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
P2860

Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia

Item
http://www.wikidata.org/entity/Q28115487
description
1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
artículu científicu espublizáu en 1990
@ast
im Juli 1990 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1990/07/05)
@sk
vědecký článek publikovaný v roce 1990
@cs
wetenschappelijk artikel (gepubliceerd op 1990/07/05)
@nl
наукова стаття, опублікована в липні 1990
@uk
name
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@ast
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@en
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@nl
type
label
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@ast
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@en
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@nl
prefLabel
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@ast
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@en
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
@en
P2093
P304
P31
P407
P433
P478
P577
P698