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

CLPUB00662
Lama Yamani;
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
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

PubMed=21303734; DOI=10.1016/j.ymgme.2011.01.002
Isabelle Racine Miousse, David Watkins, David S. Rosenblatt;
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
Jaeseung C. Kim;
Novel inborn error of vitamin B12 metabolism caused by mutations in ABCD4.
Thesis MSc (2012); McGill University Montreal; Montreal; Canada