Variant: rs113994167 

    present in Gene: ACADVL
    present in Chromosome: 17
    Position on Chromosome: 7222272
    Alleles of this Variant: T/C

rs113994167 in ACADVL gene and Pearson's marrow-pancreas syndrome PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 20107901 2010 Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

rs113994167 in ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 24503138 2014 Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

PMID 8845838 1996 Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PMID 26937394 2015 Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 21429517 2011 Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

PMID 19208414 2009 Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

PMID 14517516 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 20107901 2010 Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.