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Two Mutations of the C7 Gene, c.1424G > A and c.281-1G > T, in Two Korean Families

✍ Scribed by Hee Jung Kang; Chang-Seok Ki; Yeon-Sook Kim; Mina Hur; So Ick Jang; Ki Sik Min


Publisher
Springer
Year
2006
Tongue
English
Weight
266 KB
Volume
26
Category
Article
ISSN
0271-9142

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We have applied single-strand conformation polymorphism (SSCP) to the analysis of exon 7 of the anticoagulant protein C (PC) gene, in 13 PC-deficient Spanish families. Abnormal patterns were visualized in three samples from type I or quantitative PC deficient proposita. A previously undescribed muta