Work

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

Year: 2010

Type: article

Study design: Observational Study

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2010.147

Authors: Francesca I Arrigoni, Mar Matarin, Pamela J Thompson, Michel Michaelides, Michelle E McClements, Elizabeth Redmond, Lindsey Clarke, Elizabeth Ellins, Saifullah Mohamed, Ian Pavord, David M Hunt, Anthony T Moore, Julian Halcox, Sanjay M Sisodiya

Institutions: University College London, National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, Epilepsy Society, Moorfields Eye Hospital, Glenfield Hospital, University Hospitals of Leicester NHS Trust, Cardiff University

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute for Health and Care Research, British Heart Foundation, Great Ormond Street Hospital for Children, University College London Hospitals NHS Foundation Trust, Moorfields Eye Hospital NHS Foundation Trust

OpenAlex ID: W2004630840

FWCI: 0.908

Cites: 43

Cited by: 30

Related to: 10