PMID: 21645898

Kotzka J, Knebel B, Janssen OE, Schaefer JR, Soufi M, Jacob S, Nitzgen U, Muller-Wieland D
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.
Atherosclerosis. 2011 Sep;218(1):134-43. Epub 2011 May 18., [PubMed]
Sentences
No. Mutations Sentence Comment
185 ABCA1 p.Pro87Leu
X
ABCA1 p.Pro87Leu 21645898:185:155
status: NEW
view ABCA1 p.Pro87Leu details
 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]. Login to comment 212 ABCA1 p.Pro87Leu
X
ABCA1 p.Pro87Leu 21645898:212:26
status: NEW
view ABCA1 p.Pro87Leu details
 The corresponding SREBP-1 P87L of isoform SREBP-1c does not affect DNA binding [24]. Login to comment