ABCA1 p.Pro87Leu
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PMID: 21645898
[PubMed]
Kotzka J et al: "Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia."
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185
In a previous report describing screening of the N-terminal exons of SREBP-1c in 85 subjects with severe insulin resistance and 47 controls a heterozygous P87L mutation was detected in a single affected subject, which corresponds to the mutation we found using SREBP-1a numbering [24].
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ABCA1 p.Pro87Leu 21645898:185:155
status: NEW212 The corresponding SREBP-1 P87L of isoform SREBP-1c does not affect DNA binding [24].
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ABCA1 p.Pro87Leu 21645898:212:26
status: NEW