Non-syndromic early-onset cone-rod dystrophy and limb-girdle muscular dystrophy in a consanguineous Israeli family are caused by two independent yet linked mutations in ALMS1 and DYSF

Podobne knjige/članki

• Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel
  od: Lazar, Csilla H., et al.
  Izdano: (2015)
• A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant
  od: Namburi, Prasanthi, et al.
  Izdano: (2020)
• Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression
  od: Ruberto, Francesco Paolo, et al.
  Izdano: (2021)
• Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
  od: Namburi, Prasanthi, et al.
  Izdano: (2016)
• Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
  od: Namburi, Prasanthi, et al.
  Izdano: (2016)