Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.
complex allele
cystic fibrosis (CF)
intestinal current measurements (ICM)
intestinal organoids
targeted therapy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
28 08 2023
28 08 2023
Historique:
received:
26
07
2023
revised:
22
08
2023
accepted:
25
08
2023
medline:
29
9
2023
pubmed:
28
9
2023
entrez:
28
9
2023
Statut:
epublish
Résumé
The intricate nature of complex alleles presents challenges in the classification of
Identifiants
pubmed: 37761847
pii: genes14091705
doi: 10.3390/genes14091705
pmc: PMC10530926
pii:
doi:
Substances chimiques
CFTR protein, human
0
Chloride Channels
0
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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