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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Assuntos: | |
| Acesso em linha: | 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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