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- (sici)1098-1004(1997)10:13.0.co;2-p author "Thöny B, Blau N".
- (sici)1098-1004(1997)10:13.0.co;2-p doi "10.1002/1098-100410:13.0.CO;2-P".
- (sici)1098-1004(1997)10:13.0.co;2-p isCitedBy 6-Pyruvoyltetrahydropterin_synthase_deficiency.
- (sici)1098-1004(1997)10:13.0.co;2-p isCitedBy PTS_(gene).
- (sici)1098-1004(1997)10:13.0.co;2-p issue "1".
- (sici)1098-1004(1997)10:13.0.co;2-p journal "Hum. Mutat.".
- (sici)1098-1004(1997)10:13.0.co;2-p pages "11–20".
- (sici)1098-1004(1997)10:13.0.co;2-p pmid "9222755".
- (sici)1098-1004(1997)10:13.0.co;2-p title "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes".
- (sici)1098-1004(1997)10:13.0.co;2-p volume "10".
- (sici)1098-1004(1997)10:13.0.co;2-p year "1997".