Article
Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes.
Molecular medicine reports - 1 Oct 2015
Wu Juan, Wang Hong-Ting, Huang Xiu-Feng, Lei Xin-Lan, Lu Qin-Kang, Jin Zi-Bing
Abstract excerpt
Retinitis pigmentosa (RP) is an inherited retinopathy, which affects the photoreceptors in the retina. Lysophosphatidylcholine acyltransferase (LPCAT) is a critical phospholipid biosynthesis enzyme, which promotes the conversion of lysophosphatidylcholine into phosphatidylcholine in the remodeling pathway of PC biosynthesis. A previous study reported a homozygous insertion in the LPCAT1 gene in mice exhibiting...
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