Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa

Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-sy...

Source: Orphanet Journal of Rare Diseases - December 19, 2019 Category: Internal Medicine Authors: Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan and Stephen H. Tsang Tags: Research Source Type: research