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Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice

Mutations in crumb homologue 1 (CRB1) in humans are associated with Leber’s congenital amaurosis (LCA) and retinitis pigmentosa (RP). There is no clear genotype–phenotype correlation for human CRB1 mutations in RP and LCA. The high variability in clinical features observed in CRB1 mutations suggests...

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Detalhes bibliográficos
Publicado no:Exp Eye Res
Main Authors: Markand, Shanu, Saul, Alan, Tawfik, Amany, Cui, Xuezhi, Rozen, Rima, Smith, Sylvia B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4842092/
https://ncbi.nlm.nih.gov/pubmed/26646559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2015.11.013
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