Dataset

Exome sequencing in patients with Oliver McFarlane Syndrome

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

Dataset 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

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

DAC: Dr. Majewski's lab
Contact person: Somayyeh Fahiminiya
Email: somayyeh [dot] fahiminiya [at] mcgill [dot] ca
More details: EGAC00001000249

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