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Genetic, molecular and functional analysis of complement factor I deficiency

✍ Scribed by Sara C. Nilsson; Leendert A. Trouw; Nicolas Renault; Maria A. Miteva; Ferah Genel; Marta Zelazko; Anders G. Sjöholm; Holger Luthman; Lennart Truedsson; Bruno O. Villoutreix; Anna M. Blom


Book ID
116756479
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
58 KB
Volume
44
Category
Article
ISSN
0161-5890

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✍ Kerstin Wieland; David S. Millar; Catherine B. Grundy; Reuben S. Mibashan; Vijay 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 882 KB

A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification