Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.
Lianou
Dimitra
D
Gallego
Lorena
L
Michelakakis
Helen
H
Pérez-Cerdá
Celia
C
Pérez
Belén
B
Ginis
Stavroula
S
Jakobs
Cornelis
C
Ugarte
Magdalena
M
Desviat
Lourdes R
LR
D006801:Humans; D007223:Infant; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase / Q000235:genetics*; D009154:Mutation; D056693:Propionic Acidemia / Q000201:enzymology / Q000235:genetics*
D043586:Methylmalonyl-CoA Decarboxylase