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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...
Tallennettuna:
| Julkaisussa: | JIMD Rep |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer Berlin Heidelberg
2018
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| Aiheet: | |
| Linkit: | 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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