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

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

Abstract Background 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-syndromic retinitis pigmentosa (RP). In contrast, recessive loss-of-fu...

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Bibliographic Details
Main Authors: Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Kelch-like protein 7
Inherited retinal dystrophy
Retinitis pigmentosa
Autosomal dominant
Kelch
Online Access:https://doi.org/10.1186/s13023-019-1275-2

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