A new novel nonsense mutation in AIPL1 in a LCA4 family
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DOI: 10.1080/13816810.2019.1666878
Abstract: ABSTRACT Purpose: To investigate the disease-causing gene in a Chinese family with Leber congenital amaurosis 4 (LCA4). Materials and methods: Four members of an LCA family underwent ophthalmological examination and systemic assessment. DNA samples were… read more here.
Keywords: mutation aipl1; lca4 family; family; mutation ... See more keywords