Article
A novel splice acceptor site mutation which produces multiple splicing abnormalities resulting in protein S deficiency type I.
Thrombosis and haemostasis - 1 Jul 1999
Tatewaki H, Iida H, Nakahara M, Tsuda H, Kinoshita S, Kanaji T, Yoshida N, Miyazaki S, Hamasaki N
Abstract excerpt
In an attempt to explore the molecular mechanisms for protein S deficiency, a patient with such a deficiency was examined at the DNA, RNA and protein levels. Nucleotide analyses revealed that the proband, the mother and the grandmother had a G-->C substitution in the invariant AG dinucleotide at the splicing acceptor site of intron A/exon 2. This patient was heterozygous for this substitution and the mutant...
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