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Volumn 25, Issue 2, 2015, Pages 172-176

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

Author keywords

Cytoplasmic body; Haplotype; Hereditary myopathy with early respiratory failure; Muscle magnetic resonance imaging; Rigid spine syndrome; TTN gene

Indexed keywords

CONNECTIN; CREATINE KINASE; DESMIN; FIBRONECTIN; FIBRONECTIN 3; UNCLASSIFIED DRUG; TTN PROTEIN, HUMAN;

EID: 84921062647     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.11.005     Document Type: Article
Times cited : (19)

References (16)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.