Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.

doi:10.1007/BF00225085

Back to search

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 GT...

Topics

Base Sequence
Blindness
Codon, Initiator
DNA Primers
Female
Humans
Japan
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.