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Article

A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.

Ophthalmic genetics - 1 Dec 2020

Hiraoka Miki, Ishikawa Aki, Matsuzawa Fumiko, Aikawa Sei-Ichi, Sakurai Akihiro

Abstract excerpt

SIGNIFICANCE: The responsible genetic variants for occult macular dystrophy (OMD) were found at the predicted intrinsically disordered region (IDR) of the RP1L1 gene. PURPOSE: We examined the phenotypes and genotypes of family members from OMD. In addition, the genetic characteristics of the RP1L1 gene in OMD were investigated. METHODS: Whole-exome sequencing was applied on two affected family members, and Sanger...

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PMID: 32940107
DOI: 10.1080/13816810.2020.1821383

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