Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/13816810601013146
Reference11 articles.
1. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
2. Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families
3. Gene Therapy for Leber Congenital Amaurosis
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