Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico

Journal of Pediatrics

Volumn 159, Issue 4, 2011, Pages

  Mahadeo, Kris M ^a   Diop Bove, Ndeye ^a   Ramirez, Sonia I ^c   Cadilla, Carmen L ^c   Rivera, Enid ^c   Martin, Madelena ^e   Lerner, Norma B ^d   Diantonio, Lisa ^b   Duva, Salvatore ^b   Santiago Borrero, Pedro J ^c   Goldman, I David ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b WADSWORTH CENTER   (United States)

^c UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^d ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^e UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Hereditary folate malabsorption; HFM; PCFT; PCR; Polymerase chain reaction; Proton Coupled Folate Transporter

Indexed keywords

FOLIC ACID; MESSENGER RNA; PROTON COUPLED FOLATE TRANSPORTER;

ALLELE; ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE FREQUENCY; GENETIC DISORDER; GENETIC RISK; HEREDITARY FOLATE MALABSORPTION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INHERITANCE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALABSORPTION; MUTATION RATE; MUTATIONAL ANALYSIS; NEWBORN; PREVALENCE; PRIORITY JOURNAL; PUERTO RICO; PYROSEQUENCING;

EID: 80052814855     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.03.005     Document Type: Article

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