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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

✍ Scribed by Tanja Oppliger; Beat Thöny; Claudia Kluge; Ana Matasovic; Claus W. Heizmann; Alberto Ponzone; Marco Spada; Nenad Blau

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
191 KB
Volume
10
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by R.G

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The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel