Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

Severe congenital hypertriglyceridemia (HTG) is a rare disorder caused by mutations in genes affecting lipoprotein lipase (LPL) activity. Here we report a 5-week-old Hispanic girl with severe HTG (12,031 mg/dL, normal limit 150 mg/dL) who presented with the unusual combination of lower gastrointesti...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Gonzaga-Jauregui, Claudia, Mir, Sabina, Penney, Samantha, Jhangiani, Shalini, Midgen, Craig, Finegold, Milton, Muzny, Donna M., Wang, Min, Bacino, Carlos A., Gibbs, Richard A., Lupski, James R., Kellermayer, Richard, Hanchard, Neil A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4203304/
https://ncbi.nlm.nih.gov/pubmed/24614124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000000363
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados