Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina
نویسندگان
چکیده
منابع مشابه
Benign familial fleck retina.
A family with a benign form of fleck retina is described. Seven out of 10 siblings were affected. The consanguinious parents were both normal. The fundi were massively invaded by lesions which appeared as discrete, bright white or yellow flecks situated well behind the retinal blood vessels. The macula was always free. Fluorescein studies revealed a healthy macula and retinal and choroidal bloo...
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We reported previously that exogenously added human group V phospholipase A(2) (hVPLA(2)) could elicit leukotriene B(4) (LTB(4)) biosynthesis in human neutrophils (Han, S. K., Kim, K. P., Koduri, R., Bittova, L., Munoz, N. M., Leff, A. R., Wilton, D. C., Gelb, M. H., and Cho, W. (1999) J. Biol. Chem. 274, 11881-11888). To determine the mechanism of the hVPLA(2)-induced LTB(4) biosynthesis in ne...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2011
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.11.004