Role of
Adult
Amino Acid Sequence
Animals
Apoptosis
Base Sequence
CRISPR-Cas Systems
Female
Gene Editing
Gene Knockout Techniques
Glaucoma
/ congenital
Gliosis
/ genetics
Guanylate Cyclase-Activating Proteins
/ genetics
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Pedigree
Retina
/ metabolism
Reverse Transcriptase Polymerase Chain Reaction
Sequence Alignment
Sequence Homology, Amino Acid
Zebrafish
Zebrafish Proteins
/ genetics
CRISPR/Cas9
GCAP3
GUCA1C
exome sequencing
primary congenital glaucoma
zebrafish
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
14 05 2020
14 05 2020
Historique:
received:
27
03
2020
revised:
06
05
2020
accepted:
12
05
2020
entrez:
20
5
2020
pubmed:
20
5
2020
medline:
25
3
2021
Statut:
epublish
Résumé
Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who carried a low-frequency homozygous nonsense
Identifiants
pubmed: 32422965
pii: genes11050550
doi: 10.3390/genes11050550
pmc: PMC7288452
pii:
doi:
Substances chimiques
GUCA1C protein, human
0
Guanylate Cyclase-Activating Proteins
0
Zebrafish Proteins
0
guca1c protein, zebrafish
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Commentaires et corrections
Type : CommentIn
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