A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy.

CAMPAGNOLI, MONICA;GALLIANO, MONICA;MINCHIOTTI, LORENZO
2009-01-01

2009
Biochemistry & Biophysics focuses on the structure and chemistry of biomolecules and covers all aspects of basic biochemistry/biophysics, including molecular structure, enzyme kinetics and protein-protein interaction; this category also contains cross-disciplinary resources focused on a specific class of biological molecules, e.g., nucleic acids, steroids, magnesium, growth factors, free radicals, bio-membranes, and peptides. Excluded are resources dealing with the application of biochemical techniques to specific topics listed elsewhere in CC/LS. Resources with a strong emphasis on the integration of biochemical pathways (such as signal transduction or molecular motors) at the cellular level are placed in the Cell & Developmental Biology category.
Sì, ma tipo non specificato
Inglese
Internazionale
STAMPA
47
10
1311
1313
3
Analbuminemia; serum albumin; genetic variant
9
info:eu-repo/semantics/article
262
Caridi, G; Kacem, M; Campagnoli, Monica; Dagnino, M; Debbabi, W; Kochtali, I; Neffati, F; Galliano, Monica; Minchiotti, Lorenzo
1 Contributo su Rivista::1.1 Articolo in rivista
none
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/202650
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 6
social impact