Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

  title={Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa},
  author={Keiko Fujiki and Yoshihiro Hotta and Akira Murakami and Masaru Yoshii and Mutsuko Hayakawa and Takafumi Ichikawa and Misako Takeda and Kiyoshi Akeo and Shigekuni Okisaka and Atsushi Kanai},
  journal={Japanese Journal of Human Genetics},
SummaryHeterozygous missense mutation in codon 15 of the rhodopsin gene was detected in a patient with autosomal dominant retinitis pigmentosa (ADRP), where a transition of adenine to guanine at the second nucleotide in codon 15 (AAT→AGT), corresponding to a substitution of serine residue for asparagine residue (Asn-15-Ser) was detected. None of the remaining unrelated 42 ADRP, 24 autosomal recessive RP (ARRP) and 34 normal individuals had this alteration. Her funduscopic findings were… CONTINUE READING
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Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient

  • M Hayakawa, Y Hotta, +4 authors A Kanai
  • Am 30phthatmoI
  • 1993

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