논문KCI 등재
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
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참고문헌 (4)
- Yue D, "New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure", Neuromuscul Disord, 25, pp.172~176 (2015)
- Park HJ, "Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders", Clin Genet (2016)[DOI]
- Ceyhan-Birsoy O, "Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy", Neurology, 81, pp.1205~1214 (2013)
- Chauveau C, "A rising titan: TTN review and mutation update", Hum Mutat, 35, pp.1046~1059 (2014)
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