Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: Under-representation of the common c.985 A>G mutation in the New York state population

American Journal of Medical Genetics, Part A

Volumn 146, Issue 5, 2008, Pages 610-619

  Nichols, Matthew J ^a   Saavedra Matiz, Carlos A ^a   Pass, Kenneth A ^a   Caggana, Michele ^a  

^a WADSWORTH CENTER   (United States)

Author keywords

C8 octanoylcarnitine; Disorders of fatty acid oxidation; Inborn errors of metabolism; MCADD; Medium chain acyl CoA dehydrogenase deficiency; Newborn screening

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE;

ALLELE; ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; UNITED STATES; DNA SEQUENCE; GENETIC SCREENING; GENETICS; MOLECULAR GENETICS; NEWBORN; NUTRITIONAL DEFICIENCY; POINT MUTATION; POPULATION;

ACYL-COA DEHYDROGENASE; BASE SEQUENCE; DEFICIENCY DISEASES; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; NEONATAL SCREENING; NEW YORK; POINT MUTATION; POPULATION; SEQUENCE ANALYSIS, DNA; UNITED STATES;

EID: 43049091281     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32192     Document Type: Article

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