Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

The PROM1 (prominin 1) gene encodes an 865-amino acid glycoprotein that is expressed in retinoblastoma cell lines and in the adult retina. The protein is localized to photoreceptor outer segment disc membranes, where it plays a structural role, and in the retinal pigment epithelium (RPE), where it a...

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Bibliografski detalji
Izdano u:Cold Spring Harb Mol Case Stud
Glavni autori: Ragi, Sara D., Lima de Carvalho, Jose Ronaldo, Tanaka, Akemi J., Park, Karen Sophia, Mahajan, Vinit B., Maumenee, Irene H., Tsang, Stephen H.
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2019
Teme:
Research Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913139/
https://ncbi.nlm.nih.gov/pubmed/31836589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004481
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