Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

Author： Savage D.   McFarlane I.   Barroso I.   Soos M.   Powlson A.   Thomas E.   Bell J.   Scobie I.   Belchetz P.   Kelly W.   Halsall D.   Schafer A.   O’Rahilly S.  

Publisher： Springer Publishing Company

ISSN： 0012-186X

Source： Diabetologia, Vol.47, Iss.4, 2004-04, pp. : 753-756

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C ( LMNA ) mutations complicated by end-stage renal disease

By Imachi Hitomi  

Endocrine Journal, Vol. 35, Iss. 1, 2009-02 ,pp. : 18-21

Humana Press, Inc

Access to resources Recommend Favorite

Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors

By Pedroni M.   Gregorio C.   Cortesi L.   Reggiani Bonetti L.   Magnani G.   Simone M.   Medici V.   Priore Oliva C.   Marino M.   Ponz de Leon M.  

Techniques in Coloproctology, Vol. 18, Iss. 3, 2014-03 ,pp. : 285-289

Springer Publishing Company

Access to resources Recommend Favorite

Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia

By Hofmann Wolf Peter   Welsch Christoph   Takahashi Yoshitomo   Miyajima Hiroaki   Mihm Ulrike   Krick Christoph   Zeuzem Stefan   Sarrazin Christoph  

Scandinavian Journal of Gastroenterology, Vol. 42, Iss. 9, 2007-01 ,pp. : 1088-1094

Informa Healthcare

Access to resources Recommend Favorite

Increased Frequency of Mutations in the Gene Responsible for Familial Mediterranean Fever (MEFV) in a Cohort of Patients with Ulcerative Colitis: Evidence for a Potential Disease-Modifying Effect?

By Giaglis Stavros   Mimidis Konstantinos   Papadopoulos Vassilios   Thomopoulos Konstantinos   Sidiropoulos Prodromos   Rafail Stavros   Nikolopoulou Vassiliki   Fragouli Eleni   Kartalis Georgios   Tzioufas Athanasios   Boumpas Dimitrios   Ritis Konstantinos  

Digestive Diseases and Sciences, Vol. 51, Iss. 4, 2006-04 ,pp. : 687-692

Springer Publishing Company

Access to resources Recommend Favorite

A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene

By Castaman G.   Novella E.   Castiglia E.   Eikenboom J.C.J.   Rodeghiero F.  

Thrombosis Research, Vol. 105, Iss. 2, 2002-01 ,pp. : 135-138

Elsevier

Access to resources Recommend Favorite