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Volumn 9, Issue 1, 2000, Pages 109-112

Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LAMIN A; LAMIN C;

EID: 0034059075     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.1.109     Document Type: Article
Times cited : (594)

References (12)
  • 1
    • 0022593193 scopus 로고
    • Familial partial lipodystrophy
    • Kobberling, J. and Dunnigan, M.F. (1986) Familial partial lipodystrophy. J. Med. Genet., 23, 120-127.
    • (1986) J. Med. Genet. , vol.23 , pp. 120-127
    • Kobberling, J.1    Dunnigan, M.F.2
  • 2
    • 0022598393 scopus 로고
    • Partial lipoatrophy with insulin resistant diabetes and hyperlipidemia (Dunnigan syndrome)
    • Burn, J. and Baraitser, M. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidemia (Dunnigan syndrome). J. Med. Genet., 23, 128-130.
    • (1986) J. Med. Genet. , vol.23 , pp. 128-130
    • Burn, J.1    Baraitser, M.2
  • 3
    • 0032959251 scopus 로고    scopus 로고
    • Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
    • Garg, A., Peshock, R.M. and Fleckenstein, J.L. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J. Clin. Endocrinol. Metab., 84, 170-174.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 170-174
    • Garg, A.1    Peshock, R.M.2    Fleckenstein, J.L.3
  • 4
    • 0031932459 scopus 로고    scopus 로고
    • Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
    • Peters, J.M., Barnes, R., Bennett, L., Gitomer, W.M., Bowcock, A.M. and Garg, A. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nature Genet., 18, 292-295.
    • (1998) Nature Genet. , vol.18 , pp. 292-295
    • Peters, J.M.1    Barnes, R.2    Bennett, L.3    Gitomer, W.M.4    Bowcock, A.M.5    Garg, A.6
  • 7
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: Their structure, assembly and interactions
    • Stuurman, N., Heins, S. and Aebi, U. (1998) Nuclear lamins: their structure, assembly and interactions. J. Struct. Biol., 122, 42-66.
    • (1998) J. Struct. Biol. , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 9
    • 0030896418 scopus 로고    scopus 로고
    • Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease
    • Eng, C. and Mulligan, L.M. (1997) Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. Hum. Mutat., 9, 97-109.
    • (1997) Hum. Mutat. , vol.9 , pp. 97-109
    • Eng, C.1    Mulligan, L.M.2
  • 10
    • 0032852110 scopus 로고    scopus 로고
    • Heart to heart: From nuclear proteins to Emery-Dreifuss muscular dystrophy
    • Morris, G.E. and Manilal, S. (1999) Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy. Hum. Mol. Genet., 8, 1847-1851.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1847-1851
    • Morris, G.E.1    Manilal, S.2
  • 12
    • 0027257461 scopus 로고
    • Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    • Lin, F. and Worman, H.J. (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem., 268, 16321-16326.
    • (1993) J. Biol. Chem. , vol.268 , pp. 16321-16326
    • Lin, F.1    Worman, H.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.