A novelnull mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa
Year: 1996
Type: article
Abstract: Retinitis pigmentosa (RP) is the most common inherited retinal degeneration.A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene.We have identified a new missense rhodopsin mutation.namely A346P, which cosegregates with the disease phenotype in one Spanish family with adRP.Affected individuals in this family show onset 3f the disease with night blindness
Source: Human Mutation
Institution: Hospital Universitario Virgen del Rocío
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2005274668