An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Derivatives of vitamin B(12) (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and urine. The most common inborn error of cobalami...

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Detaylı Bibliyografya
Asıl Yazarlar: Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2013
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769968/
https://ncbi.nlm.nih.gov/pubmed/24011988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.022
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