A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family

Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations withi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Biochem Med (Zagreb)
Hauptverfasser: Caridi, Gianluca, Gulec, Elif Yilmaz, Campagnoli, Monica, Lugani, Francesca, Onal, Hasan, Kilic, Duzgun, Galliano, Monica, Minchiotti, Lorenzo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Croatian Society of Medical Biochemistry and Laboratory Medicine 2016
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4910280/
https://ncbi.nlm.nih.gov/pubmed/27346974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11613/BM.2016.031
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