• Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Thr238Ter (c.712_713delAC) (T237X); Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
  
• Mutation; HGNC; HGNC:23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (CelloPub=CLPUB00671; PubMed=19136951).
  

PubMed=19058814; DOI=10.1016/j.jpeds.2008.10.043
Miousse I.R., Watkins D., Coelho D., Rupar T., Crombez E.A., Vilain E., Bernstein J.A., Cowan T., Lee-Messer C., Enns G.M., Fowler B., Rosenblatt D.S.
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
J. Pediatr. 154:551-556(2009)

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

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