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...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
Formatua: Artikulua
Hizkuntza:English
Argitaratua: BMC 2011-11-01
Saila:Orphanet Journal of Rare Diseases
Gaiak:
Imerslund-Gräsbeck syndrome
juvenile cobalamin deficiency
founder mutation
age estimation
mutation screening, anemia
ethnicity
Sarrera elektronikoa:http://www.ojrd.com/content/6/1/74

Internet

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

Antzeko izenburuak