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Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
Tanja Scherer-Oppliger, Ana Matasovic, Stephanie Laufs, Harvey L. Levy, Elisabeth J. Quackenbush, Nenad Blau, Beat ThönyVolume:
13
Year:
1999
Language:
english
Pages:
4
DOI:
10.1002/(sici)1098-1004(1999)13:43.0.co;2-c
File:
PDF, 163 KB
english, 1999