• Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668; PubMed=19370762).
  
• Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000001425; Zygosity=Heterozygous (CelloPub=CLPUB00668; PubMed=19370762).
  

PubMed=19058814; DOI=10.1016/j.jpeds.2008.10.043
Isabelle Racine Miousse, David Watkins, David Coelho, Tony Rupar, Eric Albert Crombez, Eric Vilain, Jonathan A. Bernstein, Tina Cowan, Christopher Lee-Messer, Gregory M. Enns, Brian Fowler, David S. Rosenblatt;
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
J. Pediatr. 154:551-556(2009)

PubMed=19370762; DOI=10.1002/humu.21001
Jordan P. Lerner-Ellis, Natascia Anastasio, Jun-Hui Liu, David Coelho, Terttu Suormala, Martin Stucki, Amanda D. Loewy, Scott Gurd, Elin Grundberg, Chantal F. Morel, David Watkins ...Show all 15 authors... , Matthias R. Baumgartner, Tomi Pastinen, David S. Rosenblatt, Brian Fowler; Show fewer authors
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Hum. Mutat. 30:1072-1081(2009)

CLPUB00668
Natascia Anastasio;
Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease.
Thesis MSc (2010); McGill University Montreal; Montreal; Canada