Work

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

Year: 2009

Type: article

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2009.114

Authors: Esther Pomares, Marina Riera, Jon Permanyer, Pilar Méndez, Joaquín Castro-Navarro, Ángeles Andrés-Gutiérrez, Gemma Marfany, Roser Gonzàlez-Duarte

Institutions: Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Hospital Universitario Central de Asturias, Hospital Universitario San Agustín

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Ministerio de Economía y Competitividad, Universitat de Barcelona

OpenAlex ID: W2012838692

FWCI: 4.464

Cites: 15

Cited by: 25

Related to: 10