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Comment
. 2016 Apr;48(4):347-8.
doi: 10.1038/ng.3534.

Recurrent mutation at the classical haptoglobin structural polymorphism

Edward J Hollox  1 , Louise V Wain  2
Affiliations
Comment

Recurrent mutation at the classical haptoglobin structural polymorphism

Edward J Hollox et al. Nat Genet. 2016 Apr.

Abstract

Polymorphism of haptoglobin in human serum was first discovered over 60 years ago. A new paper characterizes the complex structural variation at the HP locus in detail and, by using imputation from flanking SNP genotype data, shows that it affects blood cholesterol levels.

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References

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