Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B(12)) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors, have been associated with cblX. HCFC1 regulates...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Quintana, Anita M., Yu, Hung-Chun, Brebner, Alison, Pupavac, Mihaela, Geiger, Elizabeth A., Watson, Abigail, Castro, Victoria L., Cheung, Warren, Chen, Shu-Huang, Watkins, David, Pastinen, Tomi, Skovby, Flemming, Appel, Bruce, Rosenblatt, David S., Shaikh, Tamim H.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2017
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886234/
https://ncbi.nlm.nih.gov/pubmed/28449119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx157
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