Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
dc.creator | Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. | en |
dc.date.accessioned | 2023-01-31T07:41:15Z | |
dc.date.available | 2023-01-31T07:41:15Z | |
dc.date.issued | 2021 | |
dc.identifier | 10.1007/s10875-020-00887-3 | |
dc.identifier.issn | 02719142 | |
dc.identifier.uri | http://hdl.handle.net/11615/72220 | |
dc.description.abstract | [No abstract available] | en |
dc.language.iso | en | en |
dc.source | Journal of Clinical Immunology | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85092389399&doi=10.1007%2fs10875-020-00887-3&partnerID=40&md5=78a81df80663c3d9ad0bd6b17eab065b | |
dc.subject | complement component C1s inhibitor | en |
dc.subject | complement component C1s inhibitor | en |
dc.subject | SERPING1 protein, human | en |
dc.subject | adult | en |
dc.subject | angioneurotic edema | en |
dc.subject | antisense therapy | en |
dc.subject | case report | en |
dc.subject | child | en |
dc.subject | clinical article | en |
dc.subject | complement component C1s inhibitor deficiency | en |
dc.subject | complement deficiency | en |
dc.subject | exon | en |
dc.subject | female | en |
dc.subject | first-degree relative | en |
dc.subject | gene | en |
dc.subject | genetic screening | en |
dc.subject | genetic variability | en |
dc.subject | genotype | en |
dc.subject | high throughput sequencing | en |
dc.subject | human | en |
dc.subject | intron | en |
dc.subject | larynx edema | en |
dc.subject | Letter | en |
dc.subject | male | en |
dc.subject | missense mutation | en |
dc.subject | pathogenicity | en |
dc.subject | preschool child | en |
dc.subject | priority journal | en |
dc.subject | real time polymerase chain reaction | en |
dc.subject | sequence analysis | en |
dc.subject | SERPING1 gene | en |
dc.subject | whole exome sequencing | en |
dc.subject | young adult | en |
dc.subject | allele | en |
dc.subject | angioneurotic edema | en |
dc.subject | genetic association study | en |
dc.subject | genetic predisposition | en |
dc.subject | genetics | en |
dc.subject | mutation | en |
dc.subject | pedigree | en |
dc.subject | Adult | en |
dc.subject | Alleles | en |
dc.subject | Angioedemas, Hereditary | en |
dc.subject | Complement C1 Inhibitor Protein | en |
dc.subject | Female | en |
dc.subject | Genetic Association Studies | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Genotype | en |
dc.subject | High-Throughput Nucleotide Sequencing | en |
dc.subject | Humans | en |
dc.subject | Introns | en |
dc.subject | Male | en |
dc.subject | Mutation | en |
dc.subject | Pedigree | en |
dc.subject | Springer | en |
dc.title | Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? | en |
dc.type | other | en |
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