TY  - GEN
AU  - Ivanov,Ivan S
AU  - Azmanov,Dimitar N
AU  - Ivanova,Mariya B
AU  - Chamova,Teodora
AU  - Pacheva,Ilyana H
AU  - Panova,Margarita V
AU  - Song,Sharon
AU  - Morar,Bharti
AU  - Yordanova,Ralitsa V
AU  - Galabova,Fani K
AU  - Sotkova,Iglika G
AU  - Linev,Alexandar J
AU  - Bitchev,Stoyan
AU  - Shearwood,Anne-Marie J
AU  - Kancheva,Dalia
AU  - Gabrikova,Dana
AU  - Karcagi,Veronika
AU  - Guergueltcheva,Velina
AU  - Geneva,Ina E
AU  - Bozhinova,Veneta
AU  - Stoyanova,Vili K
AU  - Kremensky,Ivo
AU  - Jordanova,Albena
AU  - Savov,Aleksey
AU  - Horvath,Rita
AU  - Brown,Matthew A
AU  - Tournev,Ivailo
AU  - Filipovska,Aleksandra
AU  - Kalaydjieva,Luba
TI  - Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children
SN  - 1096-7206
PY  - 2015///0610
KW  - Acidosis, Lactic
KW  - diagnosis
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Codon
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Female
KW  - Founder Effect
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Pyruvate Dehydrogenase Complex
KW  - genetics
KW  - Romania
KW  - Slovakia
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2014.07.017
ER  -