Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

類似資料

• Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers
  著者:: Shankar, Suma P., 等
  出版事項: (2016)
• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
  著者:: Bowne, Sara J., 等
  出版事項: (2008)
• Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa
  著者:: Sullivan, Lori S., 等
  出版事項: (2006)
• Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7
  著者:: Wen, Yuquan, 等
  出版事項: (2011)
• Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
  著者:: Bowne, Sara J., 等
  出版事項: (2002)