A Novel Splice Site Mutation in a Brazilian Patient with Hereditary Antithrombin Deficiency Type I

Here we report a novel mutation in a Brazilian patient with hereditary type I antithrombin deficiency (AT). It is a splice site mutation in intron 1 at nucleotide position +5 (5' [Right arrow] 3'). The mutation was a G to A transversion.

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Bibliographische Detailangaben
Veröffentlicht in:	Human heredity 1999-01, Vol.49 (2), p.119-120
Hauptverfasser:	Arnaldi, Liliane A.T., Polimeno, Newton C., Arruda, Valder R., Annichino-Bizzacchi, Joyce M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Brazil Fibrin - deficiency Fibrin - genetics Hematologic and hematopoietic diseases Humans Male Medical sciences Mutation Report Platelet diseases and coagulopathies Point Mutation Polymorphism, Single-Stranded Conformational Sequence Analysis, DNA Thrombosis - genetics
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Beschreibung
Zusammenfassung:	Here we report a novel mutation in a Brazilian patient with hereditary type I antithrombin deficiency (AT). It is a splice site mutation in intron 1 at nucleotide position +5 (5' [Right arrow] 3'). The mutation was a G to A transversion.
ISSN:	0001-5652 1423-0062
DOI:	10.1159/000022856