Clinical Phenotype of
Adolescent
Adult
Child
Cyclic Nucleotide Phosphodiesterases, Type 6
/ genetics
Electroretinography
Eye Proteins
/ genetics
Female
Humans
Longitudinal Studies
Male
Middle Aged
Mutation
Phenotype
Retinitis Pigmentosa
/ genetics
Retrospective Studies
Sequence Analysis, DNA
Tomography, Optical Coherence
Visual Acuity
Visual Fields
Young Adult
phosphodiesterase 6
retinitis pigmentosa
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Feb 2021
27 Feb 2021
Historique:
received:
28
01
2021
revised:
17
02
2021
accepted:
21
02
2021
entrez:
6
3
2021
pubmed:
7
3
2021
medline:
5
5
2021
Statut:
epublish
Résumé
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the
Identifiants
pubmed: 33673512
pii: ijms22052374
doi: 10.3390/ijms22052374
pmc: PMC7956818
pii:
doi:
Substances chimiques
Eye Proteins
0
Cyclic Nucleotide Phosphodiesterases, Type 6
EC 3.1.4.35
PDE6B protein, human
EC 3.1.4.35
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Tistou and Charlotte Kerstan Stiftung
ID : na
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