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Volumn 158 A, Issue 11, 2012, Pages 2881-2887

An inherited LMNA gene mutation in atypical Progeria syndrome

Author keywords

Atypical progeroid syndrome; LMNA; Somatic mosaicism

Indexed keywords

DNA; GLUTAMIC ACID; LAMIN A; LAMIN C; LYSINE;

EID: 84867798648     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35557     Document Type: Article
Times cited : (36)

References (25)
  • 2
  • 11
    • 33845269544 scopus 로고    scopus 로고
    • Hutchinson-Gilford progeria syndrome: Review of the phenotype
    • Hennekam RC. 2006. Hutchinson-Gilford progeria syndrome: Review of the phenotype. Am J Med Genet Part A 140A: 2603-2624.
    • (2006) Am J Med Genet Part A , vol.140 A , pp. 2603-2624
    • Hennekam, R.C.1
  • 12
    • 28744453386 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation
    • Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A. 2005. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation. J Clin Endocrinol Metab 90: 6699-6706.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 6699-6706
    • Jacob, K.N.1    Baptista, F.2    dos Santos, H.G.3    Oshima, J.4    Agarwal, A.K.5    Garg, A.6
  • 13
    • 84867754633 scopus 로고    scopus 로고
    • Perturbation of alternative splicing in a novel cardiocutaneous progeria syndrome caused by mutation in lamin A/C
    • A18.
    • Judge DP, Rhys CMJ, Guerrerio P, Geubtner J, Zhang J, Cheng A, Dietz HC. 2003. Perturbation of alternative splicing in a novel cardiocutaneous progeria syndrome caused by mutation in lamin A/C. Am J Hum Genet 73: 165, A18.
    • (2003) Am J Hum Genet , vol.73 , pp. 165
    • Judge, D.P.1    Rhys, C.M.J.2    Guerrerio, P.3    Geubtner, J.4    Zhang, J.5    Cheng, A.6    Dietz, H.C.7
  • 16
    • 68249129558 scopus 로고    scopus 로고
    • Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: Evidence for autosomal recessive inheritance
    • Liang L, Zhang H, Gu X. 2009. Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: Evidence for autosomal recessive inheritance. Acta Paediatr 98: 1365-1368.
    • (2009) Acta Paediatr , vol.98 , pp. 1365-1368
    • Liang, L.1    Zhang, H.2    Gu, X.3
  • 19
    • 58849099548 scopus 로고    scopus 로고
    • Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation
    • Mory PB, Crispim F, Kasamatsu T, Gabbay MA, Dib SA, Moisés RS. 2008. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. Arq Bras Endocrinol Metab 52: 1252-1256.
    • (2008) Arq Bras Endocrinol Metab , vol.52 , pp. 1252-1256
    • Mory, P.B.1    Crispim, F.2    Kasamatsu, T.3    Gabbay, M.A.4    Dib, S.A.5    Moisés, R.S.6
  • 22
    • 32544437002 scopus 로고    scopus 로고
    • A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis and progeroid features
    • Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. 2006. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis and progeroid features. J Clin Endocrinol Metab 91: 517-521.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 517-521
    • Van Esch, H.1    Agarwal, A.K.2    Debeer, P.3    Fryns, J.P.4    Garg, A.5
  • 25
    • 42949110706 scopus 로고    scopus 로고
    • Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy
    • Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A. 2008. Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. Am J Med Genet Part A 146A: 1049-1054.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 1049-1054
    • Zirn, B.1    Kress, W.2    Grimm, T.3    Berthold, L.D.4    Neubauer, B.5    Kuchelmeister, K.6    Müller, U.7    Hahn, A.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.