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Volumn 527, Issue 2, 2013, Pages 673-674
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A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption
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Author keywords
Folate deficiency; Folates; HCP1, heme carrier protein; HFM, hereditary folate malabsorption; Intestinal folate transport; PCFT, proton coupled folate transporter
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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;
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EID: 84881549110
PISSN: 03781119
EISSN: 18790038
Source Type: Journal
DOI: 10.1016/j.gene.2013.06.039 Document Type: Article |
Times cited : (13)
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References (11)
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