Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region
about
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientHuman argininosuccinate lyase: a structural basis for intragenic complementationNovel mutations underlying argininosuccinic aciduria in Saudi ArabiaA mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.Hyperammonemia, bane of the brain.Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.argininosuccinate <=> fumarate + arginineBacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
P2860
Q24564762-84EDF41C-90A0-4C9A-AF40-10BD781F470AQ24653392-DB43E69D-D7BC-44F6-86FE-3AA875AC1271Q33542814-50E7CEDA-4F30-43A5-B2E8-A4ADD334E002Q33676117-299D3520-2B18-46C9-9EF2-FB7AF832B30FQ35914170-20096FF7-B50B-4818-92D8-B0F5E74DAA67Q35923332-AF8A368F-781C-481D-A029-7C07DF721BB9Q37348927-6B0590C9-FA5D-4C39-8433-AEFF5E0B994BQ40744835-EBEC8FE7-934E-456B-BAC6-E4B8784177BEQ41207020-72FD6F2B-707B-475C-9BA0-BB537222D068Q41826998-B9128F43-2896-46F8-94AC-05C7FB88297AQ50295105-462092C6-4396-468E-BB0B-8A036DE003B1Q50532712-A47C0114-85E0-4CA0-BD2B-55A14435CDC3
P2860
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region
description
1990 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 1990
@ast
im Dezember 1990 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1990/12/01)
@sk
vědecký článek publikovaný v roce 1990
@cs
wetenschappelijk artikel (gepubliceerd op 1990/12/01)
@nl
наукова стаття, опублікована в грудні 1990
@uk
name
Molecular analysis of human ar ...... splicing of the coding region
@ast
Molecular analysis of human ar ...... splicing of the coding region
@en
Molecular analysis of human ar ...... splicing of the coding region
@nl
type
label
Molecular analysis of human ar ...... splicing of the coding region
@ast
Molecular analysis of human ar ...... splicing of the coding region
@en
Molecular analysis of human ar ...... splicing of the coding region
@nl
prefLabel
Molecular analysis of human ar ...... splicing of the coding region
@ast
Molecular analysis of human ar ...... splicing of the coding region
@en
Molecular analysis of human ar ...... splicing of the coding region
@nl
P2093
P2860
P356
P1476
Molecular analysis of human ar ...... splicing of the coding region
@en
P2093
D. A. McCloskey
D. C. Walker
L. R. Simard
R. R. McInnes
P2860
P304
P356
10.1073/PNAS.87.24.9625
P407
P577
1990-12-01T00:00:00Z