Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption

Pediatric Hematology and Oncology

Volumn 27, Issue 8, 2010, Pages 614-619

  Atabay, Berna ^a   Turker, Meral ^a   Ozer, Esra Arun ^a   Mahadeo, Kris ^b   Diop Bove, Ndeye ^b   Goldman, I David ^b  

^a Tepecik Training and Research Hospital   (Turkey)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Folate deficiency; HCP1; Hereditary folate malabsorption; HFM; Megaloblastic anemia; PCFT; SLC46A1

Indexed keywords

EXCITATORY AMINO ACID TRANSPORTER; FOLIC ACID; FOLINIC ACID; PROTEIN SLC46A1; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; BLOOD TRANSFUSION; BONE MARROW BIOPSY; CASE REPORT; CEREBROSPINAL FLUID LEVEL; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; ERYTHROBLAST; EXON; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC ANALYSIS; HEREDITARY FOLATE MALABSORPTION; HOSPITAL ADMISSION; HUMAN; INFANT; MALE; NUCLEOTIDE SEQUENCE; PATIENT REFERRAL; PROTON COUPLED FOLATE TRANSPORTER GENE; SIBLING; THROMBOCYTOPENIA;

FEMALE; FOLIC ACID; HUMANS; INFANT; MALABSORPTION SYNDROMES; MALE; MUTATION; PROTON-COUPLED FOLATE TRANSPORTER; SIBLINGS; TURKEY;

EID: 77958027532     PISSN: 08880018     EISSN: 15210669     Source Type: Journal    
DOI: 10.3109/08880018.2010.481705     Document Type: Article

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