Common silent mutations in all types of hereditary complement C1q deficiencies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Immunology
Link
http://link.springer.com/content/pdf/10.1007/s00251-005-0023-z.pdf
Reference19 articles.
1. Berkel AI, Birben E, Öner C, Öner R, Loos M, Petry F (2000) Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey. Immunobiology 201:347–355
2. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exogenic mutations that effect splicing. Nat Rev Genet 3:285–298
3. Kirschfink M, Petry F, Khirwadkar K, Wigand R, Kaltwasser JP, Loos M (1993) Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). Clin Exp Immunol 94:267–272
4. McAdam RA, Goundis D, Reid KBM (1988) A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. Immunogenetics 27:259–264
5. Petry F (1998) Molecular basis of hereditary C1q deficiency. Immunobiology 199:284–294
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