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

id	sg-nus-scholar.10635-173674
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spelling	sg-nus-scholar.10635-1736742024-04-24T06:52:11Z Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy Tomar, Swati Moorthy, Vikaesh Sethi, Raman Chai, Josiah Low, Poh Sim Hong, Stacey Tay Kiat Lai, Poh San PAEDIATRICS 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 10.1002/ajmg.c.31704 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 181 2 230-244 2020-08-31T08:14:45Z 2020-08-31T08:14:45Z 2019-06-01 2020-07-24T07:36:17Z Article Tomar, Swati, Moorthy, Vikaesh, Sethi, Raman, Chai, Josiah, Low, Poh Sim, Hong, Stacey Tay Kiat, Lai, Poh San (2019-06-01). Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 181 (2) : 230-244. ScholarBank@NUS Repository. https://doi.org/10.1002/ajmg.c.31704 15524868 15524876 https://scholarbank.nus.edu.sg/handle/10635/173674 en WILEY Elements
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
language	English
topic	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
spellingShingle	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 Tomar, Swati Moorthy, Vikaesh Sethi, Raman Chai, Josiah Low, Poh Sim Hong, Stacey Tay Kiat Lai, Poh San Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
description	10.1002/ajmg.c.31704
author2	PAEDIATRICS
author_facet	PAEDIATRICS Tomar, Swati Moorthy, Vikaesh Sethi, Raman Chai, Josiah Low, Poh Sim Hong, Stacey Tay Kiat Lai, Poh San
format	Article
author	Tomar, Swati Moorthy, Vikaesh Sethi, Raman Chai, Josiah Low, Poh Sim Hong, Stacey Tay Kiat Lai, Poh San
author_sort	Tomar, Swati
title	Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
title_short	Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
title_full	Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
title_fullStr	Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
title_full_unstemmed	Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
title_sort	mutational spectrum of dystrophinopathies in singapore: insights for genetic diagnosis and precision therapy
publisher	WILEY
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/173674
_version_	1800914171049541632

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

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