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

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

10.1002/ajmg.c.31704

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Bibliographic Details
Main Authors:	Tomar, Swati, Moorthy, Vikaesh, Sethi, Raman, Chai, Josiah, Low, Poh Sim, Hong, Stacey Tay Kiat, Lai, Poh San
Other Authors:	PAEDIATRICS
Format:	Article
Language:	English
Published:	WILEY 2020
Subjects:	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
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/173674
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Institution:	National University of Singapore
Language:	English

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