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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

In this work, using exome sequencing, we identified biallelic PNLPA6 mutations in patients with childhood blindness due to severe photoreceptor death and clinical features of Leber congenital amaurosis (LCA) and, interestingly, also of the rare Oliver McFarlane Syndrome

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001042 AB SOLiD 4 System Illumina HiSeq 2000 7
Publications Citations
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Nat Commun 6: 2015 5614
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