A novel frameshift deletion in the albumin gene causes analbuminemia in a young Turkish woman
Yazar
Campagnoli, Monica
Cefle, Kivanc
Gursu, Meltem
Galliano, Monica
Minchiotti, Lorenzo
Dagnino, Monica
Caridi, Gianluca
Aydin, Zeki
Ozturk, Savas
Karaali, Zeynep
Kazancioglu, Rumeyza
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Background: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin The analbuminemic trait was diagnosed in a young Turkish woman on the basis of her clinical symptoms (bilateral lower limb edema) and biochemical findings (minimal albumin amount and variable increases in other protein fractions)
Koleksiyonlar
- Makale [92796]