Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico

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 ov...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3935241/
https://ncbi.nlm.nih.gov/pubmed/21489556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2011.03.005
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