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Volumn 136, Issue 7, 2013, Pages

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

FIBULIN 5;

EID: 84879919217     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws333     Document Type: Letter
Times cited : (10)

References (9)
  • 1
    • 79957864036 scopus 로고    scopus 로고
    • Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
    • Auer-Grumbach M, Weger M, Fink-Puches R, Papic L, Frohlich E, Auer-Grumbach P, et al. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain 2011; 134(Pt 6): 1839-52
    • (2011) Brain , vol.134 , Issue.PART 6 , pp. 1839-1852
    • Auer-Grumbach, M.1    Weger, M.2    Fink-Puches, R.3    Papic, L.4    Frohlich, E.5    Auer-Grumbach, P.6
  • 2
    • 85027932742 scopus 로고    scopus 로고
    • Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in cpnpg trinucleotides, as well as in cpg dinucleotides
    • Cooper DN, Mort M, Stenson PD, Ball EV, Chuzhanova NA. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides. Hum Genomics 2010; 4: 406-10
    • (2010) Hum Genomics , vol.4 , pp. 406-410
    • Cooper, D.N.1    Mort, M.2    Stenson, P.D.3    Ball, E.V.4    Chuzhanova, N.A.5
  • 3
    • 84862648756 scopus 로고    scopus 로고
    • EVS. Exome Variant Server Seattle WA (February 2012, date last accessed
    • EVS. Exome Variant Server. NHLBI Exome Sequencing Project (ESP), Seattle, WA http://evs.gs.washington.edu/EVS/ (February 2012, date last accessed
    • NHLBI Exome Sequencing Project (ESP
  • 4
    • 0036713921 scopus 로고    scopus 로고
    • Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
    • Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002; 11: 2113-18
    • (2002) Hum Mol Genet , vol.11 , pp. 2113-2118
    • Loeys, B.1    Van Maldergem, L.2    Mortier, G.3    Coucke, P.4    Gerniers, S.5    Naeyaert, J.M.6
  • 5
    • 33744969146 scopus 로고    scopus 로고
    • Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa
    • Lotery AJ, Baas D, Ridley C, Jones RP, Klaver CC, Stone E, et al. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa. Hum Mutat 2006; 27: 568-74
    • (2006) Hum Mutat , vol.27 , pp. 568-574
    • Lotery, A.J.1    Baas, D.2    Ridley, C.3    Jones, R.P.4    Klaver, C.C.5    Stone, E.6
  • 6
    • 0037386112 scopus 로고    scopus 로고
    • Genetic heterogeneity of cutis laxa: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene
    • Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, et al. Genetic heterogeneity of cutis laxa: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet 2003; 72: 998-1004
    • (2003) Am J Hum Genet , vol.72 , pp. 998-1004
    • Markova, D.1    Zou, Y.2    Ringpfeil, F.3    Sasaki, T.4    Kostka, G.5    Timpl, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.