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1Academic Journal
المؤلفون: A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, R. G. Kuramagomedova, S. V. Bochenkov, А. Н. Семячкина, Е. А. Николаева, Е. Ю. Воскобоева, Р. Г. Курамагомедова, С. В. Боченков
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 3 (2024); 118-124 ; Российский вестник перинатологии и педиатрии; Том 69, № 3 (2024); 118-124 ; 2500-2228 ; 1027-4065
مصطلحات موضوعية: диагностика, lysosomal diseases, mucolipidosis type IV, MCOLN1 gene, mutation c.304C>T (p.Arg102Term), clinical symptoms, diagnosis, лизосомные болезни, муколипидоз IV типа, ген MCOLN1, мутация c.304C>T (p.Arg102Term), клиническая симптоматика
وصف الملف: application/pdf
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