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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
Μορφή: Άρθρο
Γλώσσα:English
Έκδοση: BMC 2011-11-01
Σειρά:Orphanet Journal of Rare Diseases
Θέματα:
Imerslund-Gräsbeck syndrome
juvenile cobalamin deficiency
founder mutation
age estimation
mutation screening, anemia
ethnicity
Διαθέσιμο Online:http://www.ojrd.com/content/6/1/74

Διαδίκτυο

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

Παρόμοια τεκμήρια