Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family

Hatsukawa, Y.; Nakao, T.; Yamagishi, T.; Okamoto, N.; Isashiki, Y.
December 2002
British Journal of Ophthalmology;Dec2002, Vol. 86 Issue 12, p1452
Academic Journal
Reports a case of truncating mutation of the Norrie disease (ND) gene in a Japanese family, in whom the proband was initially diagnosed with a sporadic form of persistent hyperplastic primary vitreous (PHPV). Case details; Low frequency of ND gene in PHPV populations; Genetic assessment that enables early diagnosis.


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