A novel nonsense mutation in the albumin gene (c.1275 C>A) causing analbuminemia in a Tunisian boy.
Gianluca
G
Caridi
Maha
M
Kacem
Monica
M
Campagnoli
Monica
M
Dagnino
Wided
W
Debbabi
Ines
I
Kochtali
Fadoua
F
Neffati
Monica
M
Galliano
Lorenzo
L
Minchiotti
D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008659:Metabolic Diseases; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics*; D014416:Tunisia; D055815:Young Adult
D018389:Codon, Nonsense; D012709:Serum Albumin