Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

• المؤلفون الرئيسيون: Tomar, Swati, Moorthy, Vikaesh, Sethi, Raman, Chai, Josiah, Low, Poh Sim, Hong, Stacey Tay Kiat, Lai, Poh San
• مؤلفون آخرون: PAEDIATRICS
• التنسيق: مقال
• اللغة: English
• منشور في: WILEY 2020
• الموضوعات: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; Becker muscular dystrophy; Duchenne muscular dystrophy; dystrophinopathy; genetic diagnosis; mutation spectrum; DUCHENNE MUSCULAR-DYSTROPHY; DEPENDENT PROBE AMPLIFICATION; SPLICING ENHANCER SEQUENCE; PROTEIN TRUNCATION TEST; EXON-SKIPPING THERAPY; POINT MUTATIONS; NONSENSE MUTATION; MESSENGER-RNA; DMD GENE; MOLECULAR DIAGNOSIS
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/173674
• المؤسسة: National University of Singapore

10.1002/ajmg.c.31704