phenylalanine hydroxylase gene Latest Research Papers

A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population

Clinica Chimica Acta ◽

10.1016/j.cca.2021.10.009 ◽

2021 ◽

Author(s):

Binbin Shao ◽

An Liu ◽

Jingjing Zhang ◽

Yan Wang ◽

Fengchang Qiao ◽

...

Keyword(s):

Capillary Electrophoresis ◽

Phenylalanine Hydroxylase ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Genotyping Method ◽

Hydroxylase Gene ◽

Phenylalanine Hydroxylase Gene ◽

Reliable Analysis

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

Gene Reports ◽

10.1016/j.genrep.2020.100819 ◽

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

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

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.1080/00365513.2020.1827287 ◽

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

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

Biology Bulletin ◽

10.1134/s1062359020060084 ◽

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

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Identifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran

Journal of Advances in Medical and Biomedical Research ◽

10.30699/jambs.28.129.198 ◽

2020 ◽

Vol 28 (129) ◽

pp. 198-203

Author(s):

Golnaz Abedini ◽

Zeinab Khazaei-Koohpar ◽

◽

Keyword(s):

Tandem Repeat ◽

Phenylalanine Hydroxylase ◽

Variable Number ◽

Hydroxylase Gene ◽

Phenylalanine Hydroxylase Gene ◽

Golestan Province

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Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology

Authorea ◽

10.22541/au.158697168.83443193 ◽

2020 ◽

Author(s):

jinhua he ◽

Rong Qiang ◽

Lin Wang ◽

weijie xu ◽

wei li ◽

...

Keyword(s):

Fluorescent Probe ◽

Phenylalanine Hydroxylase ◽

Hotspot Detection ◽

Hydroxylase Gene ◽

Phenylalanine Hydroxylase Gene ◽

Arms Pcr

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A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2018.10.011 ◽

2019 ◽

Vol 62 (9) ◽

pp. 103559 ◽

Cited By ~ 3

Author(s):

Maryam Shaykholeslam Esfahani ◽

Sadeq Vallian

Keyword(s):

Phenylalanine Hydroxylase ◽

Gene Mutations ◽

Hydroxylase Gene ◽

Phenylalanine Hydroxylase Gene ◽

Comprehensive Study

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

Gene Cell and Tissue ◽

10.5812/gct.89961 ◽

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

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Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria

Medical Journal of the Islamic Republic of Iran ◽

10.14196/mjiri.32.21 ◽

2018 ◽

Vol 32 (1) ◽

pp. 119-123 ◽

Cited By ~ 1

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

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

Human Mutation ◽

10.1002/humu.23649 ◽

2018 ◽

Vol 39 (11) ◽

pp. 1569-1580 ◽

Cited By ~ 11

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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phenylalanine hydroxylase gene
Recently Published Documents

TOTAL DOCUMENTS

H-INDEX

A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population

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

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

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

Identifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology

A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients

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

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria

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

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phenylalanine hydroxylase geneRecently Published Documents

TOTAL DOCUMENTS

H-INDEX

A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population

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

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

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

Identifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran

Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology

A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients

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

Mutation analysis of Phenylalanine hydroxylase gene in Iranian patients with Phenylketonuria

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

phenylalanine hydroxylase gene
Recently Published Documents