|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites.
|
16941645 |
2006 |
|
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 |
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
|
16435180 |
2005 |
|
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 |
Disruption of a salt bridge dramatically accelerates subunit exchange in duck delta2 crystallin.
|
15273245 |
2004 |
|
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 |
Biomarker
|
disease |
MGD |
Deficiency of AL leads to the human urea cycle disorder argininosuccinic aciduria.
|
12559843 |
2003 |
|
Argininosuccinic Aciduria
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Deficiency of AL leads to the human urea cycle disorder argininosuccinic aciduria.
|
12559843 |
2003 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
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 |
BEFREE |
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 |
UNIPROT |
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 |
GeneticVariation
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
CausalMutation
|
disease |
CLINVAR |
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
|
11747432 |
2001 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.
|
11747433 |
2001 |
|
Argininosuccinic Aciduria
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.
|
11747433 |
2001 |
|
Argininosuccinic Aciduria
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
|
11747432 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
|
9686346 |
1998 |