Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption

Molecular Genetics and Metabolism

Volumn 103, Issue 1, 2011, Pages 33-37

  Shin, Daniel Sanghoon ^a   Mahadeo, Kris ^a   Min, Sang Hee ^a   Diop Bove, Ndeye ^a   Clayton, Peter ^b   Zhao, Rongbao ^a   Goldman, I David ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Folates, proton coupled transport; HCP1, PCFT HCP1; Heme carrier protein 1; HFM, hereditary folate malabsorption; Intestinal folate transport; PCFT, proton coupled folate transporter

Indexed keywords

COTRIMOXAZOLE; FOLIC ACID; FOLINIC ACID; PROTON COUPLED FOLATE TRANSPORTER; UNCLASSIFIED DRUG; VITAMIN BINDING PROTEIN;

ADULT; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW BIOPSY; CASE REPORT; CEREBROSPINAL FLUID; CHILD; DRUG DOSE INCREASE; ELECTROENCEPHALOGRAM; FUNCTIONAL ASSESSMENT; HEREDITARY FOLATE MALABSORPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CONSANGUINITY; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENOTYPE; HELA CELLS; HUMANS; MALABSORPTION SYNDROMES; MALE; MUTATION; PEDIGREE; PROTON-COUPLED FOLATE TRANSPORTER; YOUNG ADULT;

EID: 79955149687     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.01.008     Document Type: Article

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