Variant: rs104893851 

    present in Gene: MMAA
    present in Chromosome: 4
    Position on Chromosome: 145639572
    Alleles of this Variant: C/T

rs104893851 in MMAA gene and Methylmalonic acidemia PMID 26370686 2015 Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

PMID 27591164 2017 Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

PMID 24095221 2013 Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

PMID 15308131 2004 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

rs104893851 in MMAA gene and Methylmalonic aciduria cblA type PMID 26270765 2016 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

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

PMID 16247646 2006 Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.

PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

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

PMID 27591164 2017 Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

PMID 23026888 2012 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

PMID 15308131 2004 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.