• Mutation; HGNC; 23038; LMBRD1; Simple; c.916-1G>T; Zygosity=Heterozygous; Note=Splice acceptor mutation (CelloPub=CLPUB00671; PubMed=21303734).
  
• Mutation; HGNC; 23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
  

CLPUB00662
Yamani L.
Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism.
Thesis PhD (2008); McGill University Montreal; Montreal; Canada

PubMed=19136951; DOI=10.1038/ng.294
Rutsch F., Gailus S., Miousse I.R., Suormala T., Sagne C., Toliat M.R., Nurnberg G., Wittkampf T., Buers I., Sharifi A., Stucki M., Becker C., Baumgartner M.R., Robenek H., Marquardt T., Hohne W., Gasnier B., Rosenblatt D.S., Fowler B., Nurnberg P.
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Nat. Genet. 41:234-239(2009)

CLPUB00671
Miousse I.R.
Investigations into the early steps of cobalamin metabolism.
Thesis PhD (2011); McGill University Montreal; Montreal; Canada

PubMed=21303734; DOI=10.1016/j.ymgme.2011.01.002
Miousse I.R., Watkins D., Rosenblatt D.S.
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Mol. Genet. Metab. 102:505-507(2011)

CLPUB00670
Kim J.C.
Novel inborn error of vitamin B12 metabolism caused by mutations in ABCD4.
Thesis MSc (2012); McGill University Montreal; Montreal; Canada