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Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G>C in intron 2 (IVS2 +5G>C) and ii) c.844 C>T in exon 9 (R282X). The IVS2 +5G>C mutation was also found in the brother of another deceased TD patient, but not in 78 controls and 33 subjects with low HDL. The IVS...

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Wedi'i Gadw mewn:
Prif Awduron: Serena Altilia, Livia Pisciotta, Rita Garuti, Patrizia Tarugi, Alfredo Cantafora, Laura Calabresi, Jacopo Tagliabue, Sergio Maccari, Franco Bernini, Ilaria Zanotti, Carlo Vergani, Stefano Bertolini, Sebastiano Calandra
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2003-02-01
Cyfres:Journal of Lipid Research
Pynciau:
ABCA1 minigenes
in vitro splicing
donor splice site mutation
Mynediad Ar-lein:http://www.sciencedirect.com/science/article/pii/S0022227520312128
Tagiau: Ychwanegu Tag
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