The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified-Reference-Cited by-同舟云学术

The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified

Author:

Avela Kristiina¹^ORCID,Salonen‐Kajander Riitta²,Laitinen Arja³,Ramsden Simon⁴,Barton Stephanie⁴,Rudanko Sirkka‐Liisa⁵⁶

Affiliation:

1. The Department of Clinical Genetics Helsinki University Hospital, HUSLAB Helsinki Finland

2. Norio Centre Rinnekoti Foundation Helsinki Finland

3. The Department of Ophthalmology Helsinki University Hospital Helsinki Finland

4. St Mary′s Hospital Central Manchester University Hospitals and Manchester Centre for Genomic Medicine Manchester UK

5. Visio Low Vision Research Centre Finnish Federation of the Visually Impaired Helsinki Finland

6. Finnish Register of Visual Impairment by National Institute for Health and Welfare Helsinki Finland

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

Reference37 articles.

1. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early‐onset retinitis pigmentosa;Ajmal M;Mol Vis,2012

3. A founder mutation in CERKL is a major cause of retinal dystrophy in Finland;Avela K;Acta Ophthalmol,2018

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