Ontology highlight
ABSTRACT:
SUBMITTER: Brasil S
PROVIDER: S-EPMC4687481 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Brasil S S Richard E E Jorge-Finnigan A A Leal F F Merinero B B Banerjee R R Desviat L R LR Ugarte M M Pérez B B
Clinical genetics 20140606 6
Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene, which codes for the enzyme adenosine triphosphate (ATP): cobalamin adenosyltransferase (ATR). This study reports differences in the metabolic and disease outcomes of two pairs of siblings with MMA cblB type, respectively harbouring the novel changes p.His183Leu/p.Arg190dup (P1 and P2) and the previously described mutations p.Ile96Thr/p.Ser174fs (P3 and P4). Expression analysis showed p.His183Leu and p.Arg190dup to be ...[more]