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

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


Book ID
113805579
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
65 KB
Volume
48
Category
Article
ISSN
0161-5890

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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