Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family.
Hatsukawa
Y
Y
Osaka Medical Centre and Research Institute for Maternal and Child Health, Japan. hatsu@mch.pref.osaka.jp
Nakao
T
T
Yamagishi
T
T
Okamoto
N
N
Isashiki
Y
Y
D001766:Blindness / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D015792:Retinal Dysplasia / Q000235:genetics*
D018389:Codon, Nonsense