| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8309625 | Clinica Chimica Acta | 2018 | 7 Pages |
Abstract
More HPA candidate variants were identified using new molecular diagnostic methods. The new APV and GPV system is likely to be highly beneficial for predicting clinical phenotypes for PAH-deficient patients.
Keywords
MLPADHPR6-pyruvoyl-tetrahydropterin synthaseGTPCHMHPPCDguanosine triphosphate cyclohydrolase ItetrahydrobiopterinBH4APVMPKUPHEqRT-PCRGPVL-phenylalanineNGSPAHDBSExACl-TyrosinePTPsMolecular diagnosismultiplex ligation-dependent probe amplificationNext generation sequencingTyrDihydropteridine reductaseSepiapterin reductaseMutation spectrumPhenylalanine hydroxylaseHPADried blood spotGenotype-phenotype correlationHyperphenylalaninemiaquantitative real-time PCRExome Aggregation Consortium
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Authors
Ruifang Wang, Nan Shen, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Yu Sun, Yanjie Fan, Lili Wang, Yu Wang, Zhuwen Gong, Huili Liu, Jianguo Wang, Hui Yan, Nenad Blau, Xuefan Gu, Yongguo Yu,