A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

G Caridi; A Farokhnia; F Lugani; A M de Luca; M Campagnoli; M Galliano; D Schröpfer; L Minchiotti

doi:10.1080/09674845.2020.1819632

A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

Br J Biomed Sci. 2021 Jul;78(3):154-157. doi: 10.1080/09674845.2020.1819632. Epub 2020 Oct 30.

Authors

G Caridi¹, A Farokhnia², F Lugani¹, A M de Luca², M Campagnoli³, M Galliano³, D Schröpfer², L Minchiotti³

Affiliations

¹ Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.
² The Health Department of the City of Zurich, Ambulatorium Kanonengasse, Zurich, Switzerland.
³ Department of Molecular Medicine, University of Pavia, Pavia, Italy.

PMID: 32881634
DOI: 10.1080/09674845.2020.1819632

No abstract available

Keywords: DNA sequencing; Human serum albumin; congenital analbuminaemia; heteroduplex analysis; nonsense variation; single-strand conformation polymorphism.

Publication types

Case Reports

MeSH terms

Adult
Codon, Nonsense*
DNA Mutational Analysis
Genetic Predisposition to Disease
Heteroduplex Analysis
Heterozygote
Homozygote
Humans
Hypoalbuminemia / blood
Hypoalbuminemia / diagnosis
Hypoalbuminemia / genetics*
Male
Phenotype
Serum Albumin, Human / genetics*
Siblings

Substances

ALB protein, human
Codon, Nonsense
Serum Albumin, Human