Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders-Reference-Cited by-同舟云学术

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Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders

Published:2016-07-29 Issue:3 Volume:91 Page:403-410
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Park H.J.¹²,Jang H.³,Kim J.H.⁴,Lee J.H.²,Shin H.Y.²,Kim S.M.²,Park K.D.¹,Yim S.‐V.⁴,Lee J.H.⁴,Choi Y.‐C.²

Affiliation:

1. Department of Neurology, Mokdong HospitalEwha Womans University School of Medicine Seoul Korea

2. Department of NeurologyYonsei University College of Medicine Seoul Korea

3. Department of ChemistryYonsei University Seoul Korea

4. Department of Clinical Pharmacology and Therapeutics, College of MedicineKyung Hee University Seoul Korea

Funder

Korea Health Industry Development Institute

Ministry of Health and Welfare

National Research Foundation of Korea

Ministry of Science, ICT and Future Planning

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12826

Reference28 articles.

1. The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

2. Muscular dystrophies

3. Approach to the diagnosis of congenital myopathies

4. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

5. Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

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