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Molecular basis of hereditary C1q deficiency—revisited: identification of several novel disease-causing mutations

✍ Scribed by Schejbel, L; Skattum, L; Hagelberg, S; Åhlin, A; Schiller, B; Berg, S; Genel, F; Truedsson, L; Garred, P


Book ID
118046675
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
467 KB
Volume
12
Category
Article
ISSN
1466-4879

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Homozygous hereditary C1q deficiency and
✍ Jason H. Slingsby; Peter Norsworthy; Glen Pearce; Akshay K. Vaishnaw; Helen Issl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 739 KB

Objective. To describe a new kindred with Clq deficiency and to identify the molecular lesions responsible for complete functional Clq deficiency in this and 2 other previously described kindreds. Methods. The A-, B-, and C-chain genes of Clq were amplified by polymerase chain reaction, cloned, and