Article
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.
Human genetics - 1 Jan 1995
Isashiki Y, Ohba N, Yanagita T, Hokita N, Doi N, Nakagawa M, Ozawa M, Kuroda N
Abstract excerpt
We have identified a new mutation of Norrie disease (ND) gene in two Japanese males from unrelated families; they showed typical ocular features of ND but no mental retardation or hearing impairment. A mutation was found in both patients at the initiation codon of exon 2 of the ND gene (ATG to GTG), with otherwise normal nucleotide sequences. Their mothers had the normal and mutant types of the gene, which was...
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