PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency.
Sedano
Isabel Boo
IB
Röthlisberger
Benno
B
Délèze
Guy
G
Ottiger
Cornelia
C
Panchard
Marc-Alain
MA
Spahr
André
A
Hergersberg
Martin
M
Bürgi
Willi
W
Huber
Andreas
A
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics*; D018389:Codon, Nonsense; D017868:Cyclic AMP-Dependent Protein Kinases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree
D018389:Codon, Nonsense; D017868:Cyclic AMP-Dependent Protein Kinases