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Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.
South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin.
Terron-Kwiatkowski A, et aI: Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
They showed that loss-of-function mutations in either of these two genes result in spring wheat varieties that do not require cold weather to initiate flowering.
Hemophilia A is defined by loss-of-function mutations in factor VIII, and there are greater than 40,000 registered patients in the U.
X-ALD is characterised by elevated levels of very long chain fatty acids (VLCFAs) in various tissues due to any of a number of loss-of-function mutations in the ABCD1 gene.
sup][4] Loss-of-function mutations in a-secretase complex have recently been identified in familial AI.
The potential of ANGPTL3 reduction to improve cardiovascular risk is also supported by genetic studies in humans with both heterozygous and homozygous loss-of-function mutations in their ANGPTL3 gene showing that individuals with lower or absent plasma levels of ANGPTL3 protein exhibit low plasma levels of triglycerides and LDL cholesterol, which are both risk factors for cardiovascular disease.
Atypical VWF function can be a result of missing VWF multimers (type 2A, type 2B, and platelet-type) or loss-of-function mutations in the platelet binding domain (type 2M) or factor VIII binding domain (type 2N) of VWF.
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Loss-of-function mutations in the genes that underlie each of the FA complementation groups have been found directly or indirectly to play a role in disrupting the DNA repair pathway of cells.