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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Gepubliceerd in:Exp Eye Res
Hoofdauteurs: Markand, Shanu, Saul, Alan, Tawfik, Amany, Cui, Xuezhi, Rozen, Rima, Smith, Sylvia B.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Article
Online toegang: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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