• Mutation; HGNC; HGNC:4839; HCFC1; Simple; p.Pro1492Leu (c.4475C>T); ClinVar=VCV002432377; Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228; PubMed=31462756).
  

PubMed=16281286; DOI=10.1002/humu.20258
Worgan L.C., Niles K., Tirone J.C., Hofmann A., Verner A., Sammak A., Kucic T., Lepage P., Rosenblatt D.S.
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Hum. Mutat. 27:31-43(2006)

PubMed=27233228; DOI=10.1016/j.ymgme.2016.05.014
Chu J., Pupavac M., Watkins D., Tian X., Feng Y.-M., Chen S., Fenter R., Zhang V.W., Wang J., Wong L.-J., Rosenblatt D.S.
Next generation sequencing of patients with mut methylmalonic aciduria: validation of somatic cell studies and identification of 16 novel mutations.
Mol. Genet. Metab. 118:264-271(2016)

CLPUB00669
Chu J.
Investigation of patients diagnosed with mut methylmalonic aciduria.
Thesis MSc (2017); McGill University Montreal; Montreal; Canada

PubMed=31462756; DOI=10.1038/s41436-019-0640-9
Abdrabo L.S., Watkins D., Wang S.R., Lafond-Lapalme J., Riviere J.-B., Rosenblatt D.S.
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Genet. Med. 22:432-436(2020)