Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Caridi G, Lugani F, Angeletti A, Campagnoli M, Galliano M, Minchiotti L.
Caridi G, et al.
Int J Mol Sci. 2022 Jan 21;23(3):1159. doi: 10.3390/ijms23031159.
Int J Mol Sci. 2022.
PMID: 35163085
Free PMC article.
Review.
In 28 other cases, the pathogenic variants (mainly affecting splicing, nonsense, and deletions), mostly in the homozygous form, cause a premature stop in the synthesis of the protein and lead to the condition known as congenital analbuminaemia. In this review, we will summ …
In 28 other cases, the pathogenic variants (mainly affecting splicing, nonsense, and deletions), mostly in the homozygous form, cause a prem …