An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.

Lisyová, Jana

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. [electronic resource] - BMC medical genetics 04 2018 - 64 p. digital

Publication Type: Journal Article

1471-2350

10.1186/s12881-018-0566-0 doi


Acyl-CoA Dehydrogenase--deficiency
Butyryl-CoA Dehydrogenase--genetics
Carnitine--analogs & derivatives
Ethnicity--genetics
Female
Gene Frequency
Genetic Testing
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors--ethnology
Male
Mutation
Neonatal Screening--methods
Polymorphism, Restriction Fragment Length
Sequence Analysis, DNA
Slovakia--ethnology