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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Detalles Bibliográficos
Autores principales: Tanner, Stephan M, Sturm, Amy C, Baack, Elizabeth C, Liyanarachchi, Sandya, de la Chapelle, Albert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462684/
https://www.ncbi.nlm.nih.gov/pubmed/22929189
http://dx.doi.org/10.1186/1750-1172-7-56

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462684/
https://www.ncbi.nlm.nih.gov/pubmed/22929189
http://dx.doi.org/10.1186/1750-1172-7-56

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