Heterozygous deletions of noncoding parts of the
5' Untranslated Regions
/ genetics
Adolescent
Adult
Cell Line
Comparative Genomic Hybridization
Electroretinography
Eye Proteins
/ genetics
Female
Gene Expression Regulation
/ physiology
Heterozygote
Humans
Male
Middle Aged
Multiplex Polymerase Chain Reaction
Pedigree
Promoter Regions, Genetic
/ genetics
RNA, Untranslated
/ genetics
Real-Time Polymerase Chain Reaction
Retina
/ physiopathology
Retinitis Pigmentosa
/ diagnostic imaging
Sequence Deletion
/ genetics
Tomography, Optical Coherence
Visual Field Tests
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2021
2021
Historique:
received:
29
07
2020
accepted:
16
03
2021
entrez:
28
4
2021
pubmed:
29
4
2021
medline:
6
11
2021
Statut:
epublish
Résumé
Heterozygous mutations in the gene All patients underwent thorough ophthalmological examination, including electroretinography (ERG) and Goldmann perimetry. Array-based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) were used to map heterozygous deletions, while real-time PCR on genomic DNA and long-range PCR allowed resolving the mutations at the base-pair level. We identified two independent deletions affecting the promoter and the 5' untranslated region (UTR) of In addition to reporting the identification of two novel noncoding deletions in
Substances chimiques
5' Untranslated Regions
0
Eye Proteins
0
PRPF31 protein, human
0
RNA, Untranslated
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
107-116Informations de copyright
Copyright © 2021 Molecular Vision.
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