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...

詳細記述

書誌詳細
主要な著者: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
フォーマット: 論文
言語:English
出版事項: BMC 2011-11-01
シリーズ:Orphanet Journal of Rare Diseases
主題:
オンライン・アクセス:http://www.ojrd.com/content/6/1/74