phenylalanine hydroxylase gene
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scholarly journals Identification and characterization of a novel deletion in the phenylalanine hydroxylase gene of a Chinese patient

Gene Reports ◽  
2020 ◽  
Vol 21 ◽  
pp. 100819
Author(s):  
Yu-qiang Huang ◽  
Fan Yang ◽  
Jin-ping Zhu ◽  
Ji-gang Qiu ◽  
Yong-li Li ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Chinese Patient ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Identification And Characterization

Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China

2020 ◽  
Vol 80 (8) ◽  
pp. 619-622
Author(s):  
Zhendong Zhao ◽  
Xiulian Liu ◽  
Cidan Huang ◽  
Haizhu Xu ◽  
Chaohui Fu
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene

Mutation Spectrum of the Phenylalanine Hydroxylase Gene in Phenylketonuria Patients in Golestan Province, Iran

2020 ◽  
Vol 47 (6) ◽  
pp. 569-575
Author(s):  
Zeinab Khazaei Koohpar ◽  
Yashar Qasemiyan ◽  
Hossein Haerian Ardakani ◽  
Maryamalsadat Hashemi ◽  
Mahdieh Kimiajou ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Mutation Spectrum ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Golestan Province

scholarly journals In Silico Analysis of the Novel Variant Q375R in the Phenylalanine Hydroxylase Gene

2019 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Seyed Reza Kazeminejad ◽  
Tina Shaffaf ◽  
Franz Romer
Keyword(s):  
In Silico ◽  
Phenylalanine Hydroxylase ◽  
In Silico Analysis ◽  
The Novel ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Novel Variant ◽  
Silico Analysis

scholarly journals Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria

2018 ◽  
Vol 32 (1) ◽  
pp. 119-123 ◽  
Author(s):  
Mahsa Rastegar Moghadam ◽  
Azadeh Shojaei ◽  
Vahid Babaei ◽  
Farzaneh Rohani ◽  
Farideh Ghazi
Keyword(s):  
Mutation Analysis ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene ◽  
Iranian Patients

scholarly journals Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

2018 ◽  
Vol 39 (11) ◽  
pp. 1569-1580 ◽  
Author(s):  
Diane B. Zastrow ◽  
Heather Baudet ◽  
Wei Shen ◽  
Amanda Thomas ◽  
Yue Si ◽  
...  
Keyword(s):  
Working Group ◽  
Inborn Errors Of Metabolism ◽  
Phenylalanine Hydroxylase ◽  
Sequence Variant ◽  
Variant Interpretation ◽  
Inborn Errors ◽  
Hydroxylase Gene ◽  
Phenylalanine Hydroxylase Gene
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