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Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis.

Thrombosis and haemostasis - 1 Apr 1997

Nakahara Y, Tsuji H, Nakagawa K, Masuda H, Kitamura H, Nishimura H, Kasahara T, Sugano T, Sawada S, Nakagawa M

Abstract excerpt

We have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381 in exon 3A) in Japanese kindreds with congenital type I antithrombin deficiency. The deletion detected in case 1...

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PMID: 9134630

Genes

CGA
TAT

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