Title : T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency.

Pub. Date : 1998 Mar 30

PMID : 9555046






1 Functional Relationships(s)
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1 In conclusion, the observed retention of intron 4 of the LCAT gene is the result of the specific loss of a thymine residue two bases upstream of the branchpoint adenosine residue in the putative branchpoint consensus sequence. Adenosine phosphatidylcholine-sterol acyltransferase Mesocricetus auratus