Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Alport syndrome
COL4A5
Collagen IV
founder mutation
glomerular basement membrane
next generation sequencing
pathogenic variant
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
24 11 2022
24 11 2022
Historique:
received:
14
10
2022
revised:
08
11
2022
accepted:
18
11
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked
Identifiants
pubmed: 36553470
pii: genes13122203
doi: 10.3390/genes13122203
pmc: PMC9778032
pii:
doi:
Substances chimiques
Collagen Type IV
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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