Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.

doi:10.1001/archopht.1993.01090110119036

Back to search

Article

Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993

Wong F, Goldberg M F, Hao Y

Abstract excerpt

OBJECTIVE: Norrie's disease (ND) is a rare X-linked hereditary disorder characterized by congenital blindness. A putative gene for ND has been isolated and mapped to Xp11.3. Four point mutations in this gene have been identified recently in patients with ND, thus providing strong evidence that th...

Topics

Amino Acid Sequence
Base Sequence
Blindness
Codon
DNA
DNA Mutational Analysis
Eye Proteins
Female
Genetic Linkage
Humans
Infant
Male
Molecular Sequence Data
Phenotype
Point Mutation
Polymerase Chain Reaction
X Chromosome

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.