Publication | Open Access

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

Loss-of-function MutationMendelian DisorderPuerto RicoGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyMedicineClinical Genetics