Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico

Authors:	Mahadeo Kris M Diop-Bove Ndeye Ramirez Sonia I Cadilla Carmen L Rivera Enid Martin Madelena Lerner Norma B DiAntonio Lisa Duva Salvatore Santiago-Borrero Pedro J Goldman I David

Affiliation:	^aDivision of Pediatric Hematology/Oncology, Albert Einstein College of Medicine, Bronx, NY;^bDepartments of Medicine and Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY;^cLaboratory of Human Genetics, Newborn Screening Program, Genetic Testing Section, New York State Department of Health, Wadsworth Center, Albany, NY;^dDepartment of Pediatrics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico;^eDepartment of Biochemistry, University of Puerto Rico School of Medicine, San Juan, Puerto Rico;^fSt. Christopher’s Hospital for Children, Drexel University College of Medicine, Philadelphia, PA;^gDepartment of Pediatrics, Division of Genetics, University of Massachusetts Medical Center, Worcester, MA

Abstract:

Keywords:	HFM, Hereditary folate malabsorption PCFT, Proton-Coupled Folate Transporter PCR, Polymerase chain reaction
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