Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China-Reference-Cited by-同舟云学术

Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China

Published:2018-09-17 Issue:2 Volume:33 Page:e22665
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Li Long¹,Qin Yulan²^ORCID,Su Yajie¹,Jiang Haili¹,Rejiafu Nuerya¹,Li Mingzhu¹,Muhetaer Ayijiamali¹,Liu Yongqiao¹,Ren Yan¹

Affiliation:

1. Neonatal Department; People's Hospital of Xinjiang Uygur Autonomous Region; Urumqi Xinjiang China

2. Shihezi University; Shihezi Xinjiang China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jcla.22665/fullpdf

Reference15 articles.

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3. Molecular characterization of QDPR gene in Iranian families with BH4 deficiency: reporting novel and recurrent mutations;Foroozani;JIMD Rep,2015

4. Molecular basis of mild hyperphenylalaninaemia in Turkey;Yilmaz;J Inherit Metab Dis,2000

5. Blau N Yue W Perez B [database on the Internet]. UK: Connecting rare disease researchers worldwide. C2006 - 2018 http://www.biopku.org/home/biopku.asp

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2. Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province;Frontiers in Genetics;2022-12-13

3. Molecular Analysis of 6-pyruvoyltetrahydropterin Synthase Gene in Atypical Phenylketonuric Egyptian Patients;Journal of Biotechnology and Biomedical Science;2020-07-25