Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

BACKGROUND: Inherited malabsorption of cobalamin (Cbl) causes hematological and neurological abnormalities that can be fatal. Three genes have been implicated in Cbl malabsorption; yet, only about 10% of ~400-500 reported cases have been molecularly studied to date. Recessive mutations in CUBN or AM...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Tanner, Stephan M, Sturm, Amy C, Baack, Elizabeth C, Liyanarachchi, Sandya, de la Chapelle, Albert
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2012
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3462684/
https://ncbi.nlm.nih.gov/pubmed/22929189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-56
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