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The clinical course and genetic defect in the PCFT gene in a 27-year old woman with hereditary folate malabsorption

Two sequential homozygous mutations are demonstrated in the recently cloned proton-coupled folate transporter (PCFT) gene resulting in the absence of this protein in a 27 year old woman with hereditary folate malabsorption, who is normal in all respects and has completed higher education, following...

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Autors principals: Min, Sang Hee, Oh, Sun Young, Karp, George I., Poncz, Mortimer, Zhao, Rongbao, Goldman, I. David
Format: Artigo
Idioma:Inglês
Publicat: 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3835188/
https://ncbi.nlm.nih.gov/pubmed/18718264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2008.04.009
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