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Volumn 120, Issue 2, 2007, Pages 284-285

Novel mitochondrial DNA mutations implicated in Noonan syndrome

Author keywords

Hypertrophic cardiomyopathy; Mitochondrial DNA mutations; Noonan syndrome; Sarcomeric protein mutation

Indexed keywords

CONTRACTILE PROTEIN; MITOCHONDRIAL DNA;

EID: 34447274433     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2006.07.229     Document Type: Article
Times cited : (11)

References (6)
  • 1
    • 31544452561 scopus 로고    scopus 로고
    • Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
    • Tartaglia M., Martinelli S., Stella L., et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 78 (2006) 279-290
    • (2006) Am J Hum Genet , vol.78 , pp. 279-290
    • Tartaglia, M.1    Martinelli, S.2    Stella, L.3
  • 2
    • 12444285444 scopus 로고    scopus 로고
    • Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy
    • Waldmuller S., Sakthivel S., Saadi A.V., et al. Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 35 (2003) 623-636
    • (2003) J Mol Cell Cardiol , vol.35 , pp. 623-636
    • Waldmuller, S.1    Sakthivel, S.2    Saadi, A.V.3
  • 3
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DiMauro S., and Schon E.A. Mitochondrial respiratory-chain diseases. N Engl J Med 348 (2003) 2656-2668
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • DiMauro, S.1    Schon, E.A.2
  • 6
    • 3142696886 scopus 로고    scopus 로고
    • Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis
    • Carrozzo R., Rizza T., Stringaro A., et al. Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis. J Neurochem 90 (2004) 490-501
    • (2004) J Neurochem , vol.90 , pp. 490-501
    • Carrozzo, R.1    Rizza, T.2    Stringaro, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.