Article
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
The Journal of pediatrics - 1 Oct 2011
Mahadeo Kris M, Diop-Bove Ndeye, Ramirez Sonia I, Cadilla Carmen L, Rivera Enid, Martin Madelena, Lerner Norma B, DiAntonio Lisa, Duva Salvatore, Santiago-Borrero Pedro J, Goldman I David
Abstract excerpt
OBJECTIVE: To determine whether subjects of Puerto Rican heritage are at increased risk for a specific mutation of the proton-coupled folate transporter (PCFT) causing hereditary folate malabsorption (HFM). STUDY DESIGN: Three percent of the births in Puerto Rico in 2005, with additional regional oversampling, were screened for the prevalence of the c.1082G>A; p.Y362_G389 del PCFT gene mutation. Six new subjects...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.