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Volumn 122, Issue 19-20, 2010, Pages 601-

M.3243A>G: Many faces of one single point mutation

Author keywords

[No Author keywords available]

Indexed keywords

DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENTEROPATHY; FOCAL GLOMERULOSCLEROSIS; GENE EXPRESSION; GENETIC SCREENING; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; LETTER; MATERNALLY INHERITED DIABETES AND DEAFNESS; MELAS SYNDROME; NAUSEA; PEDIGREE ANALYSIS; PERITONEAL DIALYSIS; POINT MUTATION; PSEUDOOBSTRUCTION; RENAL REPLACEMENT THERAPY; VOMITING;

EID: 78249268284     PISSN: 00435325     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00508-010-1458-2     Document Type: Letter
Times cited : (3)

References (6)
  • 1
    • 77954620853 scopus 로고    scopus 로고
    • MELAS: A mitochondrial disorder in an adult patient with a renal transplant
    • 10.1007/s00508-010-1388-z 20552288
    • SR Lederer T Klopstock H Schiffl 2010 MELAS: a mitochondrial disorder in an adult patient with a renal transplant Wien Klin Wochenschr 122 11-12 363 365 10.1007/s00508-010-1388-z 20552288
    • (2010) Wien Klin Wochenschr , vol.122 , Issue.1112 , pp. 363-365
    • Lederer, S.R.1    Klopstock, T.2    Schiffl, H.3
  • 2
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA (Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • 1:CAS:528:DyaK38Xls1yktLk%3D 10.1038/ng0892-368 1284550
    • JM van den Ouweland HH Lemkes W Ruitenbeek LA Sandkuijl MF de Vijlder PA Struyvenberg, et al. 1992 Mutation in mitochondrial tRNA (Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness Nat Genet 1 368 371 1:CAS:528:DyaK38Xls1yktLk%3D 10.1038/ng0892-368 1284550
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3    Sandkuijl, L.A.4    De Vijlder, M.F.5    Struyvenberg, P.A.6
  • 3
    • 41749086664 scopus 로고    scopus 로고
    • Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation
    • DOI 10.1111/j.1464-5491.2008.02359.x
    • R Murphy DM Turnbull M Walker AT Hattersley 2008 Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation Diabet Med 25 4 383 399 1:CAS:528:DC%2BD1cXmsFKgsb8%3D 10.1111/j.1464-5491.2008.02359.x 18294221 (Pubitemid 351490107)
    • (2008) Diabetic Medicine , vol.25 , Issue.4 , pp. 383-399
    • Murphy, R.1    Turnbull, D.M.2    Walker, M.3    Hattersley, A.T.4
  • 5
    • 0035172991 scopus 로고    scopus 로고
    • Mitochondrial enteropathy: The primary pathology may not be within the gastrointestinal tract
    • DOI 10.1136/gut.48.1.121
    • PF Chinnery S Jones L Sviland RM Andrews TJ Parsons DM Turnbull LA Bindoff 2001 Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract Gut 48 121 124 1:CAS:528:DC%2BD3MXntFKltw%3D%3D 10.1136/gut.48.1.121 11115833 (Pubitemid 32042652)
    • (2001) Gut , vol.48 , Issue.1 , pp. 121-124
    • Chinnery, P.F.1    Jones, S.2    Sviland, L.3    Andrews, R.M.4    Parsons, T.J.5    Turnbull, D.M.6    Bindoff, L.A.7
  • 6
    • 0037337107 scopus 로고    scopus 로고
    • Intestinal pseudo-obstruction and urinary retention: Cardinal features of a mitochondrial DNA-related disease
    • DOI 10.1046/j.1365-2796.2003.01095.x
    • A Garcia-Velasco C Gomez-Escalonilla JM Guerra-Vales A Cabello Y Campos J Arenas 2003 Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease J Intern Med 253 381 385 1:STN:280:DC%2BD3s%2Fpt1ymsQ%3D%3D 10.1046/j.1365-2796.2003.01095.x 12603507 (Pubitemid 36315211)
    • (2003) Journal of Internal Medicine , vol.253 , Issue.3 , pp. 381-385
    • Garcia-Velasco, A.1    Gomez-Escalonilla, C.2    Guerra-Vales, J.M.3    Cabello, A.4    Campos, Y.5    Arenas, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.