Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg
Anton Kiselev,Marianna Maretina,Sofia Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih,Elena Serebryakova,Marina Frolova,Natalia Shved, Nadezhda Krylova,Arina Il'ina,Svetlana Freund,Natalia Osinovskaya,Iskender Sultanov,Anna Egorova, Anastasia Lobenskaya,Alexander Koroteev, Irina Sosnina,Yulia Gorelik,Olesya Bespalova,Vladislav Baranov,Igor Kogan,Andrey Glotov INTERNATIONAL JOURNAL OF NEONATAL SCREENING（2024）
关键词
spinal muscular atrophy,newborn screening,SMN1,SMN2,real-time PCR,dried blood spots,SMA incidence,carrier frequency
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