title: PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency.
authors.forename: Isabel Boo
authors.initials: IB
authors.lastname: Sedano
authors.forename: Benno
authors.initials: B
authors.lastname: Röthlisberger
authors.forename: Guy
authors.initials: G
authors.lastname: Délèze
authors.forename: Cornelia
authors.initials: C
authors.lastname: Ottiger
authors.forename: Marc-Alain
authors.initials: MA
authors.lastname: Panchard
authors.forename: André
authors.initials: A
authors.lastname: Spahr
authors.forename: Martin
authors.initials: M
authors.lastname: Hergersberg
authors.forename: Willi
authors.initials: W
authors.lastname: Bürgi
authors.forename: Andreas
authors.initials: A
authors.lastname: Huber
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D017868:Cyclic AMP-Dependent Protein Kinases