Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

Eitemau Tebyg

• Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
  gan: Siemiatkowska, Anna M., et al.
  Cyhoeddwyd: (2012)
• Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
  gan: Micheal, Shazia, et al.
  Cyhoeddwyd: (2015)
• Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
  gan: Ajmal, Muhammad, et al.
  Cyhoeddwyd: (2012)
• Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
  gan: Siemiatkowska, Anna M., et al.
  Cyhoeddwyd: (2011)
• Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
  gan: Collin, Rob W.J., et al.
  Cyhoeddwyd: (2008)