|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
|
25778938 |
2015 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified compound heterozygous mutations of the argininosuccinate lyase (ASL) gene in a Chinese Han ASAuria patient.
|
26843370 |
2016 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here, we are providing an update on the molecular basis of ASLD by collecting all published (n = 67) as well as novel mutations (n = 67) of the ASL gene.
|
24166829 |
2014 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we are providing an update on the molecular basis of ASLD by collecting all published (n = 67) as well as novel mutations (n = 67) of the ASL gene.
|
24166829 |
2014 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Hereditary urea cycle diseases in Finland.
|
18616627 |
2008 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
|
11747432 |
2001 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
|
17326097 |
2007 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that a hypomorphic mouse model of argininosuccinate lyase (encoded by Asl) deficiency has a distinct phenotype of multiorgan dysfunction and NO deficiency.
|
22081021 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
|
12408190 |
2002 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
|
20298553 |
2010 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
|
9045711 |
1997 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Corpus callosum abnormalities: neuroradiological and clinical correlations.
|
26661037 |
2016 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deficiency of AL leads to the human urea cycle disorder argininosuccinic aciduria.
|
12559843 |
2003 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous p.Lys69Arg and p.Arg213∗ mutations that resulted in reduced ASL enzyme activity were found in a patient with ASLD.
|
31183366 |
2019 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900).
|
16435180 |
2005 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
|
26745957 |
2016 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Deficiency of ASL results in an accumulation of argininosuccinic acid in tissues, and excretion of argininosuccinic acid in urine leading to the condition argininosuccinic aciduria (ASA).
|
21312326 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
|
25433810 |
2014 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.
|
11747433 |
2001 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
BEFREE |
This review describes the structure and function of ASL and its homologue delta crystallin, the genetic defects associated with argininosuccinic aciduria and current theories regarding complementation in this protein.
|
11092456 |
2000 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epilepsy and argininosuccinic aciduria.
|
21744316 |
2011 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
|
10896281 |
2000 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
|
9045711 |
1997 |