A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)
详细信息    查看全文
文摘

Familial partial lipodystrophy (FPL) is a rare genetic disorder.

FPL is characterized by selective lack of subcutaneous fat.

FPL is associated with insulin resistant diabetes.

Heterozygous mutations in the lamin A/C (LMNA) gene cause FPL2.

We describe a novel heterozygous missense LMNA mutation, D47N, in exon 1.

NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via email.