A novel splicing mutation causes analbuminemia in a Portuguese boy.

doi:10.1016/j.ymgme.2011.12.009

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Article

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Molecular genetics and metabolism - 1 Mar 2012

Caridi Gianluca, Dagnino Monica, Di Duca Marco, Pinto Helena, Espinheira Maria do Céu, Guerra António, Fernandes Susana, Campagnoli Monica, Galliano Monica, Minchiotti Lorenzo

Abstract excerpt

Analbuminemia is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous or compound heterozygous subjects. It is an allelic heterogeneous defect, caused by a variety of mutations within the albumin gene. The analbuminemic condition was suspected in a Portuguese boy who presented with low albumin level (about 3.8 g/L) and a significant...

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Topics

Adolescent
Base Sequence
Frameshift Mutation
Genetic Predisposition to Disease
Humans
Hypoalbuminemia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Polymorphism, Single Nucleotide

Portugal

RNA Splicing

Sequence Analysis, DNA

Serum Albumin

Serum Albumin, Human

Source

Open in PubMed

Identifiers

PMID: 22227324
DOI: 10.1016/j.ymgme.2011.12.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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