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Hamon suffers from neurofibromatosis type 1, a genetic mutation which causes severe disfiguration and related complications.
The signature mutation is the K65R mutation, which causes variable loss in susceptibility to tenofovir DF, didanosine, and abacavir.
A third category has a so-called "nonsense mutation," which causes the cell to abruptly terminate production of the protein, making only a fragment.
The reason might be that they have a gene mutation which causes more connections between different brain areas, so there is more cross-wiring than with others.
Our screen also turned up a novel rfa1 allele with a pronounced deficiency in DSB repair and recombination and a srs2 mutation which causes only a mild defect.
This region contains the locus for the tail-short (Ts) mutation which causes skeletal abnormalities in heterozygotes and early embryonic death in homozygotes.
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One example is the A217P mutation, which caused a complete loss of TGR5 activity as measured by the luciferase assay, pointing to a crucial role of the third intracellular loop for TGR5 function.
Our DNA sequencing analyses suggest that the p.Gly14Ala is a nonsynonymous mutation, which caused G→C mutation in exon3 of VDR gene and resulted into Gly to Ala amino acid replacement (p.Gly14Ala, reference sequences, GenBank IDs: NG_008731.1, NM_000376.2, and NP_000367.1).
According to the DNA sequence analysis, the c.1254C>T genetic variant is a synonymous mutation, which caused by C to T mutations in exon 11 of human XRCC1 gene (p-serine (Ser) 418Ser).
As a result of DNA sequencing of purified B cells, we found one nucleotide deletion mutation, which caused a frame shift after the amino-acid residue 251, in half of the DNA.
In a different apoc2 mutant line, we found a stop codon mutation, which caused deletion of the Lpl-binding domain from the Apoc2 protein sequence (supplementary material Fig. S3).
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