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Hereditary Juvenile Cobalamin Deficiency Caused By Mutations In The Intrinsic Factor Gene
(Natl Acad Sciences, 2005)
Hereditary juvenile megaloblastic anemia due to vitamin B-12 (co-balamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished ...
A Novel Melanocortin 4 Receptor (Mc4R) Gene Mutation Associated with Morbid Obesity
(Endocrine Soc, 2001)
Mutations in the melanocortin 4 receptor gene (MC4R) are the most common cause of monogenic human obesity. As part of our ongoing project entitled 'Turkish Obesity Genome Study' we determined the nucleotide sequence of the ...