Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1

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 wit...

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Detalles Bibliográficos
Autores principales: Ma, Chu Jian, Lee, Winston, Stong, Nicholas, Zernant, Jana, Chang, Stanley, Goldstein, David, Nagasaki, Takayuki, Allikmets, Rando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549556/
https://www.ncbi.nlm.nih.gov/pubmed/30630813
http://dx.doi.org/10.1101/mcs.a003624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549556/
https://www.ncbi.nlm.nih.gov/pubmed/30630813
http://dx.doi.org/10.1101/mcs.a003624

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