Article

Recurrent <i>AIPL1</i> c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

2018-03-28

Abstract excerpt

<h4>Background</h4> Leber Congenital Amaurosis (LCA) is a clinically and genetically heterogeneous inherited retinal dystrophy characterized by early onset visual impairment caused by mutations in not less than 17 genes. AIPL1 mutations cause LCA type 4, comprising approximately 7% of LCA worldwide. The importance of establishing a genetic diagnosis lies in the promise of gene therapy demonstrated in mouse model...

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Literature Corpus work: 3ba30c70-32aa-5212-a3b6-c69320c4ab29
DOI: 10.1101/290650

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