{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,8]],"date-time":"2024-09-08T03:23:10Z","timestamp":1725765790273},"publisher-location":"Berlin, Heidelberg","reference-count":15,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9781573314916"},{"type":"electronic","value":"9783662410882"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004]]},"DOI":"10.1007\/978-3-662-41088-2_34","type":"book-chapter","created":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T01:11:26Z","timestamp":1387501886000},"page":"339-344","source":"Crossref","is-referenced-by-count":0,"title":["Investigation of Common Mitochondrial Point Mutations in Korea"],"prefix":"10.1007","author":[{"given":"Seon-Joo","family":"Kwon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Sup","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Min","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae-Beom","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Hyun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juhan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Hyun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Choong-Kun","family":"Ha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moo-Young","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom S.","family":"Jeon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"34_CR1","doi-asserted-by":"publisher","first-page":"S107","DOI":"10.1002\/mus.880181422","volume":"3","author":"Y Goto","year":"1995","unstructured":"Goto, Y. 1995. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 3: S107\u2013S112.","journal-title":"Muscle Nerve"},{"key":"34_CR2","doi-asserted-by":"publisher","first-page":"1402","DOI":"10.1212\/01.WNL.0000031795.91814.D8","volume":"59","author":"NL Wolf","year":"2002","unstructured":"Wolf, N.L. & J.A. Smeitink. 2002. A mitochondrial disorders: a proposal for consensus diagnostic criteria for infants and children. Neurology 59: 1402\u20131405.","journal-title":"Neurology"},{"key":"34_CR3","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1159\/000117269","volume":"36","author":"UA Walker","year":"1996","unstructured":"Walker, U.A., S. Collins, E. Byrne, et al. 1996. Respiratory chain encephalomyopathies: a diagnostic classification. Eur. Neurol. 36: 260\u2013267.","journal-title":"Eur. Neurol."},{"key":"34_CR4","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1212\/01.WNL.0000033795.17156.00","volume":"59","author":"FP Bernier","year":"2002","unstructured":"Bernier, F.P., A. Boneh, X. Dennett, et al. 2002. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59: 1406\u20131411.","journal-title":"Neurology"},{"key":"34_CR5","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1177\/0883073899014001051","volume":"14","author":"S DiMauro","year":"1999","unstructured":"DiMauro, S., E. Bonilla, D.C. De Vivo, et al. 1999. Does the patient have a mitochondrial encephalopathy? J. Child Neurol. 14: S23\u2013S35.","journal-title":"J. Child Neurol."},{"key":"34_CR6","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1007\/BF03179820","volume":"57","author":"D Parra","year":"2001","unstructured":"Parra, D., A. Gonzalez, C. Mugueta, et al. 2001. Laboratory approach to mitochondrial diseases. J. Physiol. Biochem. 57: 267\u2013284.","journal-title":"J. Physiol. Biochem."},{"key":"34_CR7","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/S0031-3955(03)00115-9","volume":"49","author":"L Gnus","year":"2002","unstructured":"Gnus, L. & E. Kaye. 2002. Diagnosis and management of mitochondrial diseases. Pediatr. Clin. North Am. 49: 203\u2013219.","journal-title":"Pediatr. Clin. North Am."},{"key":"34_CR8","unstructured":"White, S. 1998. Molecular mechanisms of mitochondrial disorders. Thesis, Department of Paediatrics. University of Melbourne. Australia."},{"key":"34_CR9","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1093\/brain\/120.10.1713","volume":"120","author":"PF Chinnery","year":"1997","unstructured":"Chinnery, P.F., N. Howell, R.N. Lightowlers, et al. 1997. Molecular pathology of MELAS and MERRF: the relationship between mutation load and clinical phenotypes. Brain 120: 1713\u20131721.","journal-title":"Brain"},{"key":"34_CR10","doi-asserted-by":"crossref","first-page":"103","DOI":"10.3346\/jkms.2002.17.1.103","volume":"17","author":"DS Kim","year":"2001","unstructured":"Kim, D.S., D.S. Jung, K.H. Park, et al. 2001. Histochemical and molecular genetic study of MELAS and MERRF in Korean patients. J. Korean Med. Sci. 17: 103\u2013112.","journal-title":"J. Korean Med. Sci."},{"key":"34_CR11","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1056\/NEJM198905183202001","volume":"320","author":"CT Moraes","year":"1989","unstructured":"Moraes, C.T., S. DiMauro, M. Zeviani, et al. 1989. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 320: 1293\u20131299.","journal-title":"N. Engl. J. Med."},{"key":"34_CR12","first-page":"1136","volume":"156","author":"P Laforet","year":"2000","unstructured":"Laforet, P., F. Ziegler, D. Sternberg, et al. 2000. MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data. [In French] Rev. Neurol. (Paris) 156: 1136\u20131147.","journal-title":"[In French] Rev. Neurol. (Paris)"},{"key":"34_CR13","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1212\/WNL.44.4.721","volume":"44","author":"M Hirano","year":"1994","unstructured":"Hirano, M., G. Silvestri, D.M. Blake, et al. 1994. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44: 721\u2013727.","journal-title":"Neurology"},{"key":"34_CR14","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1002\/ajmg.1380","volume":"106","author":"R Thorburn","year":"2001","unstructured":"Thorburn, R. 2001. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am. J. Med. Genet. 106: 102\u2013114.","journal-title":"Am. J. Med. Genet."},{"key":"34_CR15","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1002\/mus.10194","volume":"26","author":"S DiMauro","year":"2002","unstructured":"DiMauro, S., K. Tanji, E. Bonilla, et al. 2002. Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects. Muscle Nerve 26: 597\u2013697.","journal-title":"Muscle Nerve"}],"container-title":["Mitochondrial Pathogenesis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-662-41088-2_34","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,25]],"date-time":"2019-05-25T13:59:43Z","timestamp":1558792783000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-662-41088-2_34"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"ISBN":["9781573314916","9783662410882"],"references-count":15,"URL":"https:\/\/doi.org\/10.1007\/978-3-662-41088-2_34","relation":{},"subject":[],"published":{"date-parts":[[2004]]}}}