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PMID:25596310

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Citation

'Danecka, MK, Woidy, M, Zschocke, J, Feillet, F, Muntau, AC and Gersting, SW (2015) Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. J. Med. Genet. '

Abstract

In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment.

Links

PubMed Online version:10.1136/jmedgenet-2014-102621

Keywords


Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

Notes

See also

References

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