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Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

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Title: Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.
Authors: Akhkiamova MA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Marakhonov AV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Zabnenkova VV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Mikhalchuk KA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Voronin SV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Musatova VV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kekeeva TN; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Ryadninskaya NV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Chukhrova AL; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Braslavskaya SI; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Chausova PA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Beskorovainaya TS; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Savostyanov KV; FSAI 'National Medical Research Centre for Children's Health', Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia., Zhanin IS; FSAI 'National Medical Research Centre for Children's Health', Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia., Bilalov FS; SBHI Republican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia., Koroteev AL; SPB SBHI 'Diagnostic Centre (Medical Genetic)', Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia., Trofimov DY; FSBI 'NMRC OGP Named After Academician V.I. Kulakov', Akademika Oparina St., 4, 117997 Moscow, Russia., Bairova TA; FSPSI 'Scientific Centre for Family Health and Human Reproduction Problems', Timiryazeva St., 16, 664003 Irkutsk, Russia., Seitova GN; FSBSI «Tomsk National Research Medical Centre of the Russian Academy of Sciences», Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia., Mordanov SV; FSBEI HE Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia., Matulevich SA; SBHI 'Krai Clinical Hospital No. 1 Named After Professor S.V. Ochapovsky', May 1 St., 167, 350086 Krasnodar, Russia., Nikolaeva EB; SBHI Clinical Diagnostic Centre «Mother and Child Healthcare», Flotskaya St., 52, 620067 Ekaterinburg, Russia., Shchagina OA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Aug 15; Vol. 26 (16). Date of Electronic Publication: 2025 Aug 15.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1422-0067
DOI:10.3390/ijms26167891