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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| 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 |