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...

Ful tanımlama

Detaylı Bibliyografya
Asıl Yazarlar: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: BMC 2011-11-01
Seri Bilgileri:Orphanet Journal of Rare Diseases
Konular:
Imerslund-Gräsbeck syndrome
juvenile cobalamin deficiency
founder mutation
age estimation
mutation screening, anemia
ethnicity
Online Erişim:http://www.ojrd.com/content/6/1/74

Internet

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

Benzer Materyaller