|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
|
26745957 |
2016 |
|
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 |
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 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
|
21667091 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
This study aimed at the completion of the structure and the sequence of the human ASL gene, the development of a genomic DNA-based system for mutation analysis and, finally, the characterisation of the molecular genetic background of ASL deficiency in 27 unrelated patients.
|
12384776 |
2002 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
This study aimed at the completion of the structure and the sequence of the human ASL gene, the development of a genomic DNA-based system for mutation analysis and, finally, the characterisation of the molecular genetic background of ASL deficiency in 27 unrelated patients.
|
12384776 |
2002 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Human argininosuccinate lyase: a structural basis for intragenic complementation.
|
9256435 |
1997 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
|
1705937 |
1991 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disruption of a salt bridge dramatically accelerates subunit exchange in duck delta2 crystallin.
|
15273245 |
2004 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
|
25778938 |
2015 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
|
9686346 |
1998 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
|
28251416 |
2017 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
|
20236848 |
2010 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
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 |
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
|
16435180 |
2005 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
|
21667091 |
2012 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.
|
23430928 |
2012 |