Variant: rs28941784 

    present in Gene: MMAB
    present in Chromosome: 12
    Position on Chromosome: 109561068
    Alleles of this Variant: G/A

rs28941784 in MMAB gene and Methylmalonic acidemia PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 12471062 2002 Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

rs28941784 in MMAB gene and Methylmalonic aciduria cblB type PMID 19625202 2009 Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.

PMID 22614770 2012 Neurocognitive phenotype of isolated methylmalonic acidemia.

PMID 21048060 2011 Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

PMID 20696242 2010 Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.

PMID 16439175 2006 Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

PMID 17957493 2008 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

PMID 23707710 2014 High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

PMID 24059531 2013 Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

PMID 15781192 2005 Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

PMID 12471062 2002 Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

PMID 16410054 2006 Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.