Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
Molecular Genetics & Genomic Medicine
Sadat Fatemi, Seyedeh Helia SH; Eshraghi, Peyman P; Ghanei, Mahmoud M; Hamzehloei, Tayebeh T
Gundorova, Polina P; Kuznetcova, Irina A IA; Baydakova, Galina V GV; Stepanova, Anna A AA; Itkis, Yulia S YS; Kakaulina, Victoria S VS; Alferova, Irina P IP; Lyazina, Lidya V LV; Andreeva, Lilya P LP; Kanivets, Ilya I; Zakharova, Ekaterina Y EY; Kutsev, Sergey I SI; Polyakov, Aleksander V AV
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
Frontiers In Genetics
Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: PTS: 155A>G; rs104894275