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Volumn 12, Issue 3, 2008, Pages 387-389

Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder

Author keywords

[No Author keywords available]

Indexed keywords

MRE11 PROTEIN;

EID: 50649083687     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0011     Document Type: Article
Times cited : (11)

References (9)
  • 1
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    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • Carney JP, Maser RS, Olivares H, et al. (1998) The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93:477-486.
    • (1998) Cell , vol.93 , pp. 477-486
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3
  • 2
    • 12744273401 scopus 로고    scopus 로고
    • Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
    • Fernet M, Gribaa M, Salih MA, et al. (2005) Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 14:307-318.
    • (2005) Hum Mol Genet , vol.14 , pp. 307-318
    • Fernet, M.1    Gribaa, M.2    Salih, M.A.3
  • 3
    • 0027512319 scopus 로고
    • A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23
    • Hernandez D, McConville CM, Stacey M, et al. (1993) A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J Med Genet 30:135-140.
    • (1993) J Med Genet , vol.30 , pp. 135-140
    • Hernandez, D.1    McConville, C.M.2    Stacey, M.3
  • 4
    • 0029882106 scopus 로고    scopus 로고
    • Ataxia without telangiectasia masquerading as benign hereditary chorea
    • Klein C, Wenning GK, Quinn NP, Marsden CD (1996) Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 11:217-220.
    • (1996) Mov Disord , vol.11 , pp. 217-220
    • Klein, C.1    Wenning, G.K.2    Quinn, N.P.3    Marsden, C.D.4
  • 5
    • 0034020464 scopus 로고    scopus 로고
    • The Mre11 complex and ATM: Collaborating to navigate S phase
    • Petrini JH (2000) The Mre11 complex and ATM: collaborating to navigate S phase. Curr Opin Cell Biol 12:293-296.
    • (2000) Curr Opin Cell Biol , vol.12 , pp. 293-296
    • Petrini, J.H.1
  • 6
    • 0029095108 scopus 로고
    • Isolation and characterization of the human MRE11 homologue
    • Petrini JH, Walsh ME, DiMare C, et al. (1995) Isolation and characterization of the human MRE11 homologue. Genomics 29:80-86.
    • (1995) Genomics , vol.29 , pp. 80-86
    • Petrini, J.H.1    Walsh, M.E.2    DiMare, C.3
  • 7
    • 14344278568 scopus 로고    scopus 로고
    • hMRE11: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
    • Pitts SA, Kullar HS, Stankovic T, et al. (2001) hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. Hum Mol Genet 10:1155-1162.
    • (2001) Hum Mol Genet , vol.10 , pp. 1155-1162
    • Pitts, S.A.1    Kullar, H.S.2    Stankovic, T.3
  • 8
    • 0033544724 scopus 로고    scopus 로고
    • The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
    • Stewart GS, Maser RS, Stankovic T, et al. (1999) The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99:577-587.
    • (1999) Cell , vol.99 , pp. 577-587
    • Stewart, G.S.1    Maser, R.S.2    Stankovic, T.3
  • 9
    • 3242889151 scopus 로고    scopus 로고
    • Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis
    • Taylor AM, Groom A, Byrd PJ (2004) Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst) 3:1219-1225.
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1219-1225
    • Taylor, A.M.1    Groom, A.2    Byrd, P.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.