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Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?

Thumbnail
Autor
Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H.
Fecha
2021
Language
en
DOI
10.1007/s10875-020-00887-3
Materia
complement component C1s inhibitor
complement component C1s inhibitor
SERPING1 protein, human
adult
angioneurotic edema
antisense therapy
case report
child
clinical article
complement component C1s inhibitor deficiency
complement deficiency
exon
female
first-degree relative
gene
genetic screening
genetic variability
genotype
high throughput sequencing
human
intron
larynx edema
Letter
male
missense mutation
pathogenicity
preschool child
priority journal
real time polymerase chain reaction
sequence analysis
SERPING1 gene
whole exome sequencing
young adult
allele
angioneurotic edema
genetic association study
genetic predisposition
genetics
mutation
pedigree
Adult
Alleles
Angioedemas, Hereditary
Complement C1 Inhibitor Protein
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
High-Throughput Nucleotide Sequencing
Humans
Introns
Male
Mutation
Pedigree
Springer
Mostrar el registro completo del ítem
Resumen
[No abstract available]
URI
http://hdl.handle.net/11615/72220
Colecciones
  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [19735]

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