Associated Papers
Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
Aslan T et al.
Journal of Biomolecular Structure & Dynamics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Duan H et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2019
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.
Biglari A et al.
Springerplus, 2015
Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons.
Gundry CN et al.
Nucleic Acids Research, 2008
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
Dobrowolski SF et al.
Molecular Genetics and Metabolism, 2007
[Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].
Nechiporenko MV et al.
Tsitologiia I Genetika, 0
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