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

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

<p>Abstract</p> <p>Background</p> <p>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...

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Détails bibliographiques
Auteurs principaux: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
Format: Article
Langue:English
Publié: BMC 2011-11-01
Collection:Orphanet Journal of Rare Diseases
Sujets:
Imerslund-Gräsbeck syndrome
juvenile cobalamin deficiency
founder mutation
age estimation
mutation screening, anemia
ethnicity
Accès en ligne:http://www.ojrd.com/content/6/1/74

Internet

http://www.ojrd.com/content/6/1/74

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