Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

BACKGROUND: Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Muta...

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Detalhes bibliográficos
Main Authors: Beech, Cameron M, Liyanarachchi, Sandya, Shah, Nidhi P, Sturm, Amy C, Sadiq, May F, de la Chapelle, Albert, Tanner, Stephan M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3226546/
https://ncbi.nlm.nih.gov/pubmed/22078000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-74
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