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pro vyhledávání: '"Anna Fomenko"'
Autor:
Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10844 (2024)
The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified
Externí odkaz:
https://doaj.org/article/3b6702a753e74b0f826ce46b88e6f036