ABCC6 p.Arg1138*
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PMID: 12384774
[PubMed]
Le Saux O et al: "Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa."
No.
Sentence
Comment
81
The three disease alleles, R1339C, Y768X, and R1138X, associated with the type I, II and III haplotypes represent three ancestral founder alleles from which 74% of the Afrikaner alleles have descended.
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ABCC6 p.Arg1138* 12384774:81:46
status: NEW