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Polymorphism of the Complement C8A and -B Genes in Two Families with C8β Deficiency and Neisserial Infections

✍ Scribed by Giovanna M.R. Barba; Thomas J. Kaufmann; Peter M. Schneider; Christian Rittner; Melchiorre Brai


Book ID
112240533
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
493 KB
Volume
72
Category
Article
ISSN
1090-2341

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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