Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing

Molecular Genetics and Metabolism

Volumn 100, Issue 3, 2010, Pages 241-250

  Smith, Emily H ^a   Thomas, Cheryl ^a   McHugh, David ^a   Gavrilov, Dimitar ^a   Raymond, Kimiyo ^a   Rinaldo, Piero ^a   Tortorelli, Silvia ^a   Matern, Dietrich ^a   Highsmith, W Edward ^a   Oglesbee, Devin ^a  

^a MAYO CLINIC   (United States)

Author keywords

Biochemical genetics; Fatty acid oxidation; Gene sequencing; In silico; Medium chain acyl coA dehydrogenase; Newborn screening; Variant of unknown significance

Indexed keywords

CARNITINE; DNA; GLYCINE; HEXANOYLGLYCINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; OCTANOYLCARNITINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BIOCHEMISTRY; BLOOD ANALYSIS; CHILD; COMPUTER MODEL; CONTROLLED STUDY; DIAGNOSTIC TEST; ENZYME DEFICIENCY; EXON; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; URINALYSIS; WILD TYPE;

ACYL-COA DEHYDROGENASE; ADOLESCENT; ADULT; ALLELES; CARNITINE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; GLYCINE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; NEONATAL SCREENING; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 77953020257     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.001     Document Type: Article

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