Late-onset pattern macular dystrophy mimicking
macular flecks
macular retinal pigment epithelial mottling
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
07
11
2018
accepted:
27
12
2018
pubmed:
12
1
2019
medline:
27
5
2020
entrez:
12
1
2019
Statut:
epublish
Résumé
ROM1 (retinal outer segment membrane protein 1) is a 351-amino acid integral membrane protein on Chromosome 11q, with high structural similarity to PRPH2/RDS. Localized at the rims of photoreceptor outer segments (OSs), it is required for the maintenance of OS structure. Here, we describe a case with a phenotypic manifestation of a homozygous single-base pair deletion, c.712delC (p.Leu238Cysfs*78) in the
Identifiants
pubmed: 30630813
pii: mcs.a003624
doi: 10.1101/mcs.a003624
pmc: PMC6549556
pii:
doi:
Substances chimiques
ABCA4 protein, human
0
ATP-Binding Cassette Transporters
0
Eye Proteins
0
PRPH2 protein, human
0
Peripherins
0
ROM1 protein, human
0
Tetraspanins
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NEI NIH HHS
ID : P30 EY001792
Pays : United States
Organisme : NEI NIH HHS
ID : P30 EY019007
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028203
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028954
Pays : United States
Informations de copyright
© 2019 Ma et al.; Published by Cold Spring Harbor Laboratory Press.
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