Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene

INTRODUCTION: Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Here...

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Autori principali: Caridi, Gianluca, Dagnino, Monica, Erdeve, Omer, Di Duca, Marco, Yildiz, Duran, Alan, Serdar, Atasay, Begum, Arsan, Saadet, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Croatian Society of Medical Biochemistry and Laboratory Medicine 2014
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3936982/
https://ncbi.nlm.nih.gov/pubmed/24627724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11613/BM.2014.017
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