A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

Gene

Volumn 527, Issue 2, 2013, Pages 673-674

  Diop Bove, N ^a   Jain, M ^b   Scaglia, F ^b   Goldman, I D ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Folate deficiency; Folates; HCP1, heme carrier protein; HFM, hereditary folate malabsorption; Intestinal folate transport; PCFT, proton coupled folate transporter

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; FOLINIC ACID; HEMOGLOBIN; HOMOCYSTEINE; PROTON COUPLED FOLATE TRANSPORTER;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY WEIGHT; BONE MARROW BIOPSY; CASE REPORT; DIARRHEA; EXON; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; GENE DELETION; GENETIC ANALYSIS; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HEREDITARY FOLATE MALABSORPTION; HOSPITAL DISCHARGE; HUMAN; INFANT; INFLUENZA B; LINGUISTICS; MALABSORPTION; MALE; MEAN CORPUSCULAR VOLUME; MEDICAL HISTORY; MEGALOBLASTIC ANEMIA; MUSCLE HYPOTONIA; PNEUMONIA; PREMATURITY; PRIORITY JOURNAL; RESPIRATORY FAILURE; TERM BIRTH; VITAMIN SUPPLEMENTATION;

CEREBROSPINAL FLUID; CSF; FOLATE DEFICIENCY; FOLATES; HCP1, HEME CARRIER PROTEIN; HEREDITARY FOLATE MALABSORPTION; HFM; HFM, HEREDITARY FOLATE MALABSORPTION; INTESTINAL FOLATE TRANSPORT; PCFT; PCFT, PROTON-COUPLED FOLATE TRANSPORTER; PROTON-COUPLED FOLATE TRANSPORTER;

FOLIC ACID; HUMANS; INFANT; MALABSORPTION SYNDROMES; MALE; NICARAGUA; PROTON-COUPLED FOLATE TRANSPORTER; SEQUENCE DELETION;

EID: 84881549110     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.039     Document Type: Article

References (11)

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