Prothrombin Saint‐Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin

Summary A new prothrombin variant, with a point mutation at nucleotide 20 029 resulting in Asp 552 to Glu substitution (prothrombin numbering), has been identified in a male newborn. Plasma prothrombin level was

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Bibliographische Detailangaben
Veröffentlicht in:	British journal of haematology 2006-03, Vol.132 (6), p.770-773
Hauptverfasser:	Rouy, Stanislas, Vidaud, Dominique, Alessandri, Jean‐Luc, Dautzenberg, Marie‐Dominique, Venisse, Laurence, Guillin, Marie‐Claude, Bezeaud, Annie
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences dysprothrombinaemia Hematologic and hematopoietic diseases Humans Hypoprothrombinemias - blood Hypoprothrombinemias - genetics Infant, Newborn Male Medical sciences Mutation, Missense - genetics Parents Point Mutation - genetics Prothrombin - analysis Prothrombin - genetics Prothrombin - metabolism prothrombin deficiency sodium binding thrombin Thromboplastin - metabolism variant
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Beschreibung
Zusammenfassung:	Summary A new prothrombin variant, with a point mutation at nucleotide 20 029 resulting in Asp 552 to Glu substitution (prothrombin numbering), has been identified in a male newborn. Plasma prothrombin level was
ISSN:	0007-1048 1365-2141
DOI:	10.1111/j.1365-2141.2005.05920.x