A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency

Phosphoglycerate kinase-1 (PGK1) deficiency is a rare X-linked disorder caused by pathogenic variants in the PGK1 gene. Complete loss-of-function variants have not been reported in this gene, indicating that residual enzyme function is critical for viability in males. Therefore, copy number variants...

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I publikationen:JIMD Rep
Huvudupphovsmän: Behlmann, Andrea Medrano, Goyal, Namita A., Yang, Xiaoyu, Chen, Ping H., Ankala, Arunkanth
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2018
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336546/
https://ncbi.nlm.nih.gov/pubmed/30570712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_147
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