Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
Titomanlio
L
L
De Brasi
D
D
Buoninconti
A
A
Sperandeo
M P
MP
Pepe
A
A
Andria
G
G
Sebastio
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D018797:Cell Cycle Proteins; D002675:Child, Preschool; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D035781:Siblings; D013577:Syndrome
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D011506:Proteins