Title : Three novel mutations of antithrombin inducing high-molecular-mass compounds.

Pub. Date : 1994 Dec

PMID : 7981186






2 Functional Relationships(s)
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1 We have identified three novel mutations of the antithrombin (AT) gene in patients with thrombotic complications: a Cys 128 --> Tyr mutations, a G --> A mutation in the intervening sequence 4 (IVS4) 14 nucleotide 5" to exon 5, and a 9 bp deletion in the 3" end of exon 6 resulting in a short aberrant sequence after Arg 425. Arginine serpin family C member 1 Homo sapiens
2 We have identified three novel mutations of the antithrombin (AT) gene in patients with thrombotic complications: a Cys 128 --> Tyr mutations, a G --> A mutation in the intervening sequence 4 (IVS4) 14 nucleotide 5" to exon 5, and a 9 bp deletion in the 3" end of exon 6 resulting in a short aberrant sequence after Arg 425. Arginine serpin family C member 1 Homo sapiens