The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption and impaired folate transport into the central nervous system. Recent studies in 1 family revealed that the molecular basis for this disorder is a loss-of-function mutation in...

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Autors principals: Zhao, Rongbao, Min, Sang Hee, Qiu, Andong, Sakaris, Antoinette, Goldberg, Gary L., Sandoval, Claudio, Malatack, J. Jeffrey, Rosenblatt, David S., Goldman, I. David
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2007
Matèries:
Hematopoiesis
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1939898/
https://ncbi.nlm.nih.gov/pubmed/17446347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-02-077099
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