Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

Antzeko izenburuak

• Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
  nork: Kabir, Firoz, et al.
  Argitaratua: (2016)
• Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
  nork: Ullah, Inayat, et al.
  Argitaratua: (2016)
• Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families
  nork: Iqbal, Muhammad, et al.
  Argitaratua: (2011)
• Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness
  nork: Naeem, Muhammad Asif, et al.
  Argitaratua: (2015)
• Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
  nork: Nadeem, Raheela, et al.
  Argitaratua: (2020)