A naturally occurring gamma globin gene mutation enhances SP1 binding activity.
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چکیده
منابع مشابه
Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation.
Lipoprotein lipase (LPL) hydrolyzes triglycerides in the circulation and promotes the hepatic uptake of remnant lipoproteins. Since the gene was cloned in 1989, more than 100 LPL gene mutations have been identified, the majority of which cause loss of enzymatic function. In contrast to this, the naturally occurring LPL(S447X) variant is associated with increased lipolytic function and an anti-a...
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ژورنال
عنوان ژورنال: Molecular and Cellular Biology
سال: 1990
ISSN: 0270-7306,1098-5549
DOI: 10.1128/mcb.10.1.95