SCOPUS 정보 검색 플랫폼

Diabetes Care

Volumn 23, Issue 2, 2000, Pages 258-259

Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipadystrophy and insulin resistance [5]

(3) Hegele, Robert A a Anderson, Carol M a Cao, Henian a

a ROBARTS RESEARCH INSTITUTE (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ATORVASTATIN; HUMAN INSULIN; LAMIN A; LAMIN C;

ADULT; CASE REPORT; CHROMOSOME 1Q; CLINICAL FEATURE; DNA SEQUENCE; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; INSULIN RESISTANCE; LETTER; LIPODYSTROPHY; SEQUENCE ANALYSIS;

EID: 0033971843 PISSN: 01495992 EISSN: None Source Type: Journal
DOI: 10.2337/diacare.23.2.258 Document Type: Letter

Times cited : (12)

References (6)

1
- 0022593193
- Familial partial lipodystrophy
- Kobberling J, Dunnigan MF: Familial partial lipodystrophy. J Med Genet 23:120-127, 1986
- (1986) J Med Genet , vol.23 , pp. 120-127
- Kobberling, J.¹ Dunnigan, M.F.²

2
- 0031932459
- Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1 q21-22
- Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, Garg A: Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1 q21-22. Nat Genet 18:292-235, 1998
- (1998) Nat Genet , vol.18 , pp. 292-1235
- Peters, J.M.¹ Barnes, R.² Bennett, L.³ Gitomer, W.M.⁴ Bowcock, A.M.⁵ Garg, A.⁶

3
- 0032231709
- A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1 q
- Jackson SN, Pinkney J, Bargiotta A, Veal CD, Howlett TA, McNally PG, Corral R, Johnson A, Trembath RC: A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1 q. Am J Hum Genet 63: 534-540, 1998
- (1998) Am J Hum Genet , vol.63 , pp. 534-540
- Jackson, S.N.¹ Pinkney, J.² Bargiotta, A.³ Veal, C.D.⁴ Howlett, T.A.⁵ McNally, P.G.⁶ Corral, R.⁷ Johnson, A.⁸ Trembath, R.C.⁹

4
- 0033555512
- Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1 q21-22
- Anderson JL, Khan M, David WS, Mahdavi Z, Nuttall FQ, Krech E, West SG, Vance JM, Pericak-Vance MA, Nance MA: Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1 q21-22. Am J Med Genet 82:161-165, 1999
- (1999) Am J Med Genet , vol.82 , pp. 161-165
- Anderson, J.L.¹ Khan, M.² David, W.S.³ Mahdavi, Z.⁴ Nuttall, F.Q.⁵ Krech, E.⁶ West, S.G.⁷ Vance, J.M.⁸ Pericak-Vance, M.A.⁹ Nance, M.A.¹⁰

5
- 0032977685
- Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
- Bonne G, DiBarletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Tomolo D, Schwartz K: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288, 1999
- (1999) Nat Genet , vol.21 , pp. 285-288
- Bonne, G.¹ Dibarletta, M.R.² Varnous, S.³ Becane, H.M.⁴ Hammouda, E.H.⁵ Merlini, L.⁶ Muntoni, F.⁷ Greenberg, C.R.⁸ Gary, F.⁹ Urtizberea, J.A.¹⁰ Duboc, D.¹¹ Fardeau, M.¹² Tomolo, D.¹³ Schwartz, K.¹⁴

6
- 0027257461
- Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
- Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268:16321-16326, 1993
- (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.