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...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Beech Cameron M, Liyanarachchi Sandya, Shah Nidhi P, Sturm Amy C, Sadiq May F, de la Chapelle Albert, Tanner Stephan M
বিন্যাস: প্রবন্ধ
ভাষা:English
প্রকাশিত: BMC 2011-11-01
মালা:Orphanet Journal of Rare Diseases
বিষয়গুলি:
Imerslund-Gräsbeck syndrome
juvenile cobalamin deficiency
founder mutation
age estimation
mutation screening, anemia
ethnicity
অনলাইন ব্যবহার করুন:http://www.ojrd.com/content/6/1/74

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

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