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Article

Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.

Journal of immunology (Baltimore, Md. : 1950) - 15 Nov 1995

Saucedo L, Ackermann L, Platonov A E, Gewurz A, Rakita R M, Densen P

Abstract excerpt

We studied the molecular bases for C8 beta deficiency in 34 unrelated families from the United States and the former Soviet Union. These families represented 69 unrelated null alleles of which 59 (86%) were found to be due to a previously described C-->T transition in exon 9. Six additional null alleles were also caused by C-->T transitions, of which four (6%) were located at base 388 in exon 3, one (2%) at base...

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PMID: 7594510

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