Population screening for the common G985 mutation causing medium-chain acyi-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system

Clinical Chemistry

Volumn 43, Issue 3, 1997, Pages 436-442

  Seddon, Helen R ^a   Gray, George ^a   Pollitt, Rodney J ^b   Iitiä, Antti ^c   Green, Anne ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF TURKU   (Finland)

Author keywords

disease frequency; neonatal screening; time resolved fluorescence

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INCIDENCE; NEWBORN; NEWBORN SCREENING; NORMAL HUMAN; POLYMERASE CHAIN REACTION; POPULATION GENETICS; UNITED KINGDOM;

EID: 0031056949     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.3.436     Document Type: Article

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