טוען...
Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene
Coagulation Factor XIII is a heterotetrameric protransglutaminase which stabilizes preformed fibrin clots by covalent crosslinking them. Inherited homozygous or compound heterozygous deficiency of coagulation Factor XIII (FXIII) is a rare severe bleeding disorder affecting 1 in 2 million individuals...
שמור ב:
| הוצא לאור ב: | Hum Genome Var |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Publishing Group
2016
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4760118/ https://ncbi.nlm.nih.gov/pubmed/27081562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.59 |
| תגים: |
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