Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.E199fs
Back to variants list

MMAA

NM_172250.3:p.E199fs

Associated Papers

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.

Jorge-Finnigan A et al.

Biochimica Et Biophysica Acta, 2010

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B et al.

Journal of Inherited Metabolic Disease, 2008

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.

Richard E et al.

The Journal of Pathology, 2007

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Martínez MA et al.

Molecular Genetics and Metabolism, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."