This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ Evagreen assay for gene expression analysis. EvaGreen assays consist of unlabeled PCR primer.
Info: EG; Same primer pair as used in qPCR assay qHsaCED0037848; exonic
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene AIPL1 encoding aryl-hydrocarbon interacting protein-like 1 was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq Jul 2008]