PK Aarau: first homozygous nonsense mutation causing pyruvate kinase deficiency

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Bibliographic Details
Published in:	British journal of haematology Vol. 127; no. 3; pp. 364 - 366
Main Authors:	Sedano, Isabel Boo, Röthlisberger, Benno, Délèze, Guy, Ottiger, Cornelia, Panchard, Marc‐Alain, Spahr, André, Hergersberg, Martin, Bürgi, Willi, Huber, Andreas
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Science Ltd 01-11-2004 Blackwell Publishing Ltd
Subjects:	Anemia, Hemolytic, Congenital Nonspherocytic - enzymology Anemia, Hemolytic, Congenital Nonspherocytic - genetics Codon, Nonsense Cyclic AMP-Dependent Protein Kinases - deficiency Cyclic AMP-Dependent Protein Kinases - genetics Female Hematology hereditary haemolytic anaemia Humans Infant, Newborn Male mutation detection nonsense mutation Pedigree pyruvate kinase deficiency red cell emzymophathy
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Bibliography:	SourceType-Other Sources-1 content type line 63 ObjectType-Correspondence-1
ISSN:	0007-1048 1365-2141
DOI:	10.1111/j.1365-2141.2004.05209.x