Sequence variation at the phenylalanine hydroxylase gene in the British Isles.
Linda Tyfield(Baylor College of Medicine), Iain Smith, Peter S. Harper(University Hospital of Wales), F. Cockburn, N Wood, Daniela T. Pilz(University Hospital of Wales), A Stephenson, J. L. Bidwell(University of Bristol), A Harvie
PubMed
February 1, 1997
Cited by 22
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