Whole locus sequencing identifies a prevalent founder deep intronic rpgrip1 pathologic variant in the french leber congenital amaurosis cohort

HIGHLIGHTS

• who: Isabelle Perrault and collaborators from the Laboratory of Genetics in Ophthalmology (LGO), UMR1163, Institute of Genetics Diseases, Genomics Platform, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, US24/CNRS UMS3633, Paris, France have published the research: Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort, in the Journal: Genes 2021, 12, 287. of 18/01/2021
• what: The authors aimed to investigate the non-coding regions of one non-syndromic LCA gene in series of six families displaying one single disease allele . . .
  

   

  

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