Ontology highlight
ABSTRACT:
SUBMITTER: Kumari C
PROVIDER: S-EPMC5538998 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Kumari Chandrawati C Kapoor Seema S Varughese Bijo B Pollipali Sunil Kumar SK Ramji Siddarth S
Indian journal of clinical biochemistry : IJCB 20160804 3
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p. ...[more]