Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivanov, Ivan S
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. [electronic resource] - Molecular genetics and metabolism - 76-83 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2014.07.017 doi
Acidosis, Lactic--diagnosis
Adolescent
Child
Child, Preschool
Codon
Consanguinity
DNA Mutational Analysis
Female
Founder Effect
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation
Phenotype
Pyruvate Dehydrogenase Complex--genetics
Romania
Slovakia
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. [electronic resource] - Molecular genetics and metabolism - 76-83 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2014.07.017 doi
Acidosis, Lactic--diagnosis
Adolescent
Child
Child, Preschool
Codon
Consanguinity
DNA Mutational Analysis
Female
Founder Effect
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation
Phenotype
Pyruvate Dehydrogenase Complex--genetics
Romania
Slovakia