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

Study

Study ID	Alternative Stable ID	Type
EGAS00001001013		Other

Study Description

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

Study Datasets 1 dataset.

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Dataset ID	Description	Technology	Samples
EGAD00001001042	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 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	AB SOLiD 4 System,Illumina HiSeq 2000	7

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