Title : Novel mutation (E113X) of antithrombin III gene (AT3) in a woman with gestational recurrent thrombosis.

Pub. Date : 2000 Apr 24

PMID : 10766996






1 Functional Relationships(s)
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1 The DNA sequencing demonstrated novel mutations in exon 3A of AT3: a G to T substitution at nucleotide position 5333 in codon GAG for Glu 113, causing a stop codon (E113X), and an A to T substitution at position 5338 in codon AAA for Lys 114, forming Asn (K114N). Glycosaminoglycans serpin family C member 1 Homo sapiens