Hereditary complement C7 deficiency in nine families: Subtotal C7 deficiency revisited
✍ Scribed by Marie-Anne Rameix-Welti; Catherine H. Régnier; Frank Bienaimé; Jacques Blouin; Jurg Schifferli; Wolf H. Fridman; Catherine Sautès-Fridman; Veronique Frémeaux-Bacchi
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 187 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0014-2980
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📜 SIMILAR VOLUMES
A C7 cDNA probe detecting a TaqI restriction fragment length polymorphism has been used to examine the segregation of the "silent allele" (C7\*Q0) in two familial deficiencies. Carrier diagnosis in healthy children is possible when both parents are heterozygotes. Only one of these two families was i
## Abstract A woman with systemic lupus erythematosus (SLE) was found to have undetectable serum total complement (C) activity with marked reductions in levels of several C components. Recognition of rising C4, C3, and C5 levels coupled with sustained absence of hemolytic activity led to studies of
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