The Frequency of Heterozygous Carriage of the PAH Gene Nucleotide Sequence Variants Associated with the Development of Phenylketonuria in the ESSE-Vologda Population-Based Cohort Study
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Published:2021-04
Issue:2
Volume:36
Page:92-99
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ISSN:0891-4168
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Container-title:Molecular Genetics, Microbiology and Virology
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language:en
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Short-container-title:Mol. Genet. Microbiol. Virol.
Author:
Kurilova O. V.ORCID, Klimushina M. V.ORCID, Kiseleva A. V.ORCID, Ershova A. I.ORCID, Sotnikova E. A.ORCID, Divashuk M. G.ORCID, Khlebus E. Yu.ORCID, Skirko O. P.ORCID, Efimova I. A.ORCID, Shalnova S. A.ORCID, Slominsky P. A.ORCID, Meshkov A. N.ORCID, Drapkina O. M.ORCID
Subject
Infectious Diseases,Virology,Genetics,Molecular Biology,Microbiology
Reference24 articles.
1. Blau, N., van Spronsen, F.J., and Levy, H.L., Phenylketonuria, Lancet, 2010, vol. 376, no. 9750, pp. 1417–1427. https://doi.org/10.1016/S0140-6736(10)60961-0 2. Volgina, S.Ya., Yafarova, S.Sh., and Kletenkova, G.R., Phenylketonuria in children: Modern aspects of pathogenesis, clinic, treatment, Ross. Vestn. Perinatol. Pediatr., 2017, vol. 62, no. 5, pp. 111–118. https://doi.org/10.21508/1027-4065-2017-62-5-111-118 3. PAHvdb: Phenylalanine Hydroxylase Gene Locus-Specific Database. http://www.biopku.org/home/ pah.asp. Accessed February 5, 2020. 4. Zschocke, J., Phenylketonuria mutations in Europe, Hum. Mutat., 2003, vol. 21, no. 4, pp. 345–356. https://doi.org/10.1002/humu.10192 5. Gundorova, P., Kuznetsova, I.A., Kutsev, S.I., Golikhina, T.A., Aksyanova, Kh.F., Nenasheva, S.A., et al., Results of genotyping program of PKU and HPA patients, Med. Genet., 2018, vol. 17, no. 12, pp. 14–24.
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