A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
Biochemical and Biophysical Research Communications(2019)
摘要
Tangier disease is a rare disorder of lipoprotein metabolism that presents with extremely low levels of HDL cholesterol and apoprotein A-I. It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Clinical heterogeneity and mutational pattern of Tangier disease are poorly characterized. Moreover, also familial HDL deficiency may be caused by mutations in ABCA1 gene.
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关键词
ABCA1 gene,Tangier disease,Familial HDL deficiency,Intronic mutations,Splicing defects,Truncated proteins
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