Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease

Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlying clinical heterogeneity, including penetrance of...

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Detalles Bibliográficos
Autores principales: Zernant, Jana, Lee, Winston, Wang, Jun, Goetz, Kerry, Ullah, Ehsan, Nagasaki, Takayuki, Su, Pei-Yin, Fishman, Gerald A., Tsang, Stephen H., Tumminia, Santa J., Brooks, Brian P., Hufnagel, Robert B., Chen, Rui, Allikmets, Rando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000055/
https://www.ncbi.nlm.nih.gov/pubmed/35353811
http://dx.doi.org/10.1371/journal.pgen.1010129

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