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Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation

✍ Scribed by Jesús M. Martín-Campos; Rosa Roig; Carme Mayoral; Silvia Martinez; Gertrudis Martí; Juan Antonio Arroyo; Josep Julve; Francisco Blanco-Vaca


Book ID
116349396
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
335 KB
Volume
413
Category
Article
ISSN
0009-8981

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X-linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness within the third decade of life. Mutations in the RPGR gene (retinitis pigmentosa GTPase regulator), located on Xp21.1 in the RP3 region, have