Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
28944235 (PubMed )
Supplement: MGG3-5-516-s001.xlsx › Table_S2
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
Zhao R et al.
Molecular Aspects of Medicine, 2017
A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption.
Diop-Bove N et al.
Gene, 2013
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
Mahadeo KM et al.
The Journal of Pediatrics, 2011
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
Meyer E et al.
Molecular Genetics and Metabolism, 2010
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.
Borzutzky A et al.
Clinical Immunology (orlando, Fla.), 2009
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
Zhao R et al.
Blood, 2007
Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants.
Wang X et al.
Blood Cells, Molecules & Diseases, 0
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