A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

Molecular Genetics and Metabolism

Volumn 99, Issue 3, 2010, Pages 325-328

  Meyer, Esther ^a   Kurian, Manju A ^a,b   Pasha, Shanaz ^a   Trembath, Richard C ^c   Cole, Trevor ^d   Maher, Eamonn R ^a,d  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

Anemia; Frameshift mutation; Hereditary folate malabsorption; PCFT; SLC46A1

Indexed keywords

CARRIER PROTEIN; FOLIC ACID; FOLINIC ACID; PROTON COUPLED FOLATE TRANSPORTER; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; EXON; FOLATE METABOLISM; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENETIC SCREENING; HEREDITARY FOLATE MALABSORPTION; HOMOZYGOSITY; HUMAN; INFANT; MALABSORPTION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; CHILD; CONSANGUINITY; FAMILY; FEMALE; FOLIC ACID; FRAMESHIFT MUTATION; HUMANS; INTESTINAL ABSORPTION; MALABSORPTION SYNDROMES; MALE; MEMBRANE TRANSPORT PROTEINS; PAKISTAN; PEDIGREE; PHENOTYPE;

EID: 76349112934     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.11.004     Document Type: Article

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