Mutation Spectrum of the Phenylalanine Hydroxylase Gene in Phenylketonuria Patients in Golestan Province, Iran
-
Published:2020-11
Issue:6
Volume:47
Page:569-575
-
ISSN:1062-3590
-
Container-title:Biology Bulletin
-
language:en
-
Short-container-title:Biol Bull Russ Acad Sci
Author:
Zeinab Khazaei Koohpar ,Qasemiyan Yashar,Ardakani Hossein Haerian,Hashemi Maryamalsadat,Kimiajou Mahdieh,Mohammadian Sakineh,Zaeri Hossein
Publisher
Pleiades Publishing Ltd
Subject
General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology
Reference29 articles.
1. Ajami, N., Kazeminezhad, S.R., Foroughmand, A.M., Hasanpour, M., and Aminzadeh, M., A preliminary mutation analysis of phenylketonuria in southwest Iran, Genet. Mol. Res., 2013, vol. 12, pp. 4958–4966. 2. Al Hafid, N. and Christodoulou, J., Phenylketonuria: a review of current and future treatments, Transl. Pediatr., 2015, vol. 4, pp. 304–317. 3. Alavinejad, E., Sajedi, S.Z., Razipour, M., Entezam, M., Mohajer, N., Setoodeh, A., Talebi, S., and Keramatipour, M., A novel variant in the PAH gene causing phenylketonuria in an Iranian pedigree, Avicenna, J. Med. Biotechnol., 2017, vol. 9, pp. 146–149. 4. Anjema, K., van Rijn, M., Hofstede, F.C., Bosch, A.M., Hollak, C.E., Rubio-Gozalbo, E., de Vries, M.C., Janssen, M.C., Boelen, C.C., Burgerhof, J.G., Blau, N., Heiner-Fokkema, M.R., and van Spronsen, F.J., Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype, Orphanet J. Rare Dis., 2013, vol. 8, p. 103. 5. Baturina, O.A., Bondar, A.A., Tupikin, A.E., Zhabin, S.G., and Morozov, I.V., Analysis of phenylalanine hydroxylase gene mutations in phenylketonuria patients from Kemerovo oblast and the Sakha Republic, Cytol. Genet., 2012, vol. 46, pp. 227–232.
Cited by
3 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
|
|