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

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-function m...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Oh, Jin Kyun, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Ragi, Sara, Yang, Jing, Levi, Sarah R., Ryu, Joseph, Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6924004/
https://ncbi.nlm.nih.gov/pubmed/31856884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1275-2
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