The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine-Reference-Cited by-同舟云学术

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The analysis of using a panel of the most common variants in the PAH gene for the newborn screening in Ukraine

Published:2022-09 Issue: Volume:32 Page:100907
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Fishchuk Liliya,Rossokha Zoia,Olkhovich Natalia,Pichkur Nataliia,Popova Olena,Medvedieva Nataliia,Vershyhora Viktoriia,Dubitska Olha,Shkurko Tetiana,Popovych Larysa,Bondar Olga,Morozuk Irina,Onyshchenko Svitlana,Yevtushok Lyubov,Tsizh Oksana,Bryl Iryna,Tul Olena,Kalynka Svitlana,Zinkina Iryna,Matviiuk Svitlana,Riabova Yulianna,Gorovenko Nataliia

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference29 articles.

1. Disorder: Phenylketonuria;Jones,2020

2. Normal plasma free amino acid values in adults: the influence of some common physiological variables;Scriver;Metabolism,1985

3. Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome;Lidsky;Proc. Natl. Acad. Sci. U. S. A.,1985

4. PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: correlation of mutation type with disease manifestation and severity;Baturina;J. Med. Biochem.,2014

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1. Carriers of autosomal recessive conditions: are they really ‘unaffected?’;Journal of Medical Genetics;2023-09-29

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