메뉴 건너뛰기




Volumn 8, Issue 3, 2013, Pages 909-913

Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations

Author keywords

Mutation frequency; Tuberous sclerosis; Tuberous sclerosis complex 1; Tuberous sclerosis complex 2

Indexed keywords

ARTICLE; GENE; GENE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLAND; RACE DIFFERENCE; STATISTICAL ANALYSIS; TAIWAN; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; UNITED KINGDOM; UNITED STATES;

EID: 84881123154     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2013.1583     Document Type: Article
Times cited : (5)

References (18)
  • 6
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
    • Roach ES, Gomez MR and Northrup H: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13: 624-628, 1998.
    • (1998) J Child Neurol , vol.13 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 7
    • 0025864035 scopus 로고
    • Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria
    • Gomez MR: Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann N Y Acad Sci 615: 1-7, 1991.
    • (1991) Ann N y Acad Sci , vol.615 , pp. 1-7
    • Gomez, M.R.1
  • 8
    • 0026844336 scopus 로고
    • Diagnostic criteria: Tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association
    • Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D and Hawley L: Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association. J Child Neurol 7: 221-224, 1992.
    • (1992) J Child Neurol , vol.7 , pp. 221-224
    • Roach, E.S.1    Smith, M.2    Huttenlocher, P.3    Bhat, M.4    Alcorn, D.5    Hawley, L.6
  • 9
    • 18244377693 scopus 로고    scopus 로고
    • Blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1
    • Steering Committee of the Breast Cancer Information Core (BIC) Consortium: Interpreting epidemiological research
    • Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, Tavtigian SV, Nathanson KL, Ostrander E and Frank TS; Steering Committee of the Breast Cancer Information Core (BIC) Consortium: Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet 38: 824-833, 2001.
    • (2001) J Med Genet , vol.38 , pp. 824-833
    • Eng, C.1    Brody, L.C.2    Wagner, T.M.3    Devilee, P.4    Vijg, J.5    Szabo, C.6    Tavtigian, S.V.7    Nathanson, K.L.8    Ostrander, E.9    Frank, T.S.10
  • 10
    • 0036511614 scopus 로고    scopus 로고
    • Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort
    • Bunn CF, Lintott CJ, Scott RS and George PM: Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat 19: 311, 2002.
    • (2002) Hum Mutat , vol.19 , pp. 311
    • Bunn, C.F.1    Lintott, C.J.2    Scott, R.S.3    George, P.M.4
  • 12
    • 14644430466 scopus 로고    scopus 로고
    • The role of UV induced lesions in skin carcinogenesis: An overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors
    • Daya-Grosjean L and Sarasin A: The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors. Mutat Res 571: 43-56, 2005.
    • (2005) Mutat Res , vol.571 , pp. 43-56
    • Daya-Grosjean, L.1    Sarasin, A.2
  • 14
    • 14644438645 scopus 로고    scopus 로고
    • Mutations induced by ultraviolet light
    • Pfeifer GP, You YH and Besaratinia A: Mutations induced by ultraviolet light. Mutat Res 571: 19-31, 2005.
    • (2005) Mutat Res , vol.571 , pp. 19-31
    • Pfeifer, G.P.1    You, Y.H.2    Besaratinia, A.3
  • 15
    • 0029985398 scopus 로고    scopus 로고
    • Asymmetric substitution patterns in the two DNA strands of bacteria
    • Lobry JR: Asymmetric substitution patterns in the two DNA strands of bacteria. Mol Biol Evol 13: 660-665, 1996.
    • (1996) Mol Biol Evol , vol.13 , pp. 660-665
    • Lobry, J.R.1
  • 16
    • 0027966917 scopus 로고
    • Strand asymmetry in human mitochondrial DNA mutations
    • Tanaka M and Ozawa T: Strand asymmetry in human mitochondrial DNA mutations. Genomics 22: 327-335, 1994.
    • (1994) Genomics , vol.22 , pp. 327-335
    • Tanaka, M.1    Ozawa, T.2
  • 17
    • 0037380022 scopus 로고    scopus 로고
    • Transcription-associated mutational asymmetry in mammalian evolution
    • NISC Comparative Sequencing Program
    • Green P, Ewing B, Miller W, Thomas PJ; NISC Comparative Sequencing Program, Green ED: Transcription-associated mutational asymmetry in mammalian evolution. Nat Genet 33: 514-517, 2003.
    • (2003) Nat Genet , vol.33 , pp. 514-517
    • Green, P.1    Ewing, B.2    Miller, W.3    Thomas, P.J.4    Green, E.D.5
  • 18
    • 57749208708 scopus 로고    scopus 로고
    • Transcription-induced mutational strand bias and its effect on substitution rates in human genes
    • Mugal CF, von Grünberg HH and Peifer M: Transcription-induced mutational strand bias and its effect on substitution rates in human genes. Mol Biol Evol 26: 131-142, 2009.
    • (2009) Mol Biol Evol , vol.26 , pp. 131-142
    • Mugal, C.F.1    Von Grünberg, H.H.2    Peifer, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.