• 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
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=19136951; DOI=10.1038/ng.294
Frank Rutsch, Susann Gailus, Isabelle Racine Miousse, Terttu Suormala, Corinne Sagne, Mohammad Reza Toliat, Gudrun Nurnberg, Tanja Wittkampf, Insa Buers, Azita Sharifi, Martin Stucki ...Show all 20 authors... , Christian Becker, Matthias R. Baumgartner, Horst Robenek, Thorsten Marquardt, Wolfgang Hohne, Bruno Gasnier, David S. Rosenblatt, Brian Fowler, Peter Nurnberg; Show fewer authors
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Nat. Genet. 41:234-239(2009)

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

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