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10
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30
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"Hypercholesterolemia," autosomal recessive
- ... each cell. The parents of an individual with autosomal recessive hypercholesterolemia each carry one copy of the altered gene, ... article on PubMed Central Soutar AK, Naoumova RP. Autosomal recessive hypercholesterolemia. Semin Vasc Med. 2004 Aug;4(3):241- ...
- ... 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001 Oct;69( ...
- ... and formation of fatty acids, the formation of cholesterol, and the breakdown of various molecules and drugs.CYB5R3 gene mutations that cause autosomal recessive congenital methemoglobinemia type I typically reduce enzyme activity ...
- ... is not known, however, how a disturbance of cholesterol synthesis leads to the specific features of Greenberg dysplasia. LBR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... Affected individuals are unable to absorb sufficient fats, cholesterol, and vitamins that are necessary for normal growth and development. SAR1B This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... the fats found in xanthomas. The accumulation of cholesterol and cholestanol throughout the body's tissues causes the signs and symptoms of cerebrotendinous xanthomatosis. CYP27A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... cell death. In addition, the inability to transport cholesterol and phospholipids out of cells results in very low ... Tangier disease is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... acyltransferase deficiency Dyslipoproteinemic corneal dystrophy FED LCATA deficiency ...
- ... not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
