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

Internet

https://scholarbank.nus.edu.sg/handle/10635/173674

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