A carregar...
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
BACKGROUND: Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been associated wi...
Na minha lista:
| Publicado no: | Clin Diabetes Endocrinol |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7362519/ https://ncbi.nlm.nih.gov/pubmed/32685188 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40842-020-00100-9 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|