Thus the mutation results in alterations in the bile composition.
Experts believe the next influenza pandemic could result from such a mutation of virus strains.
PATIENTS: Carriers of a mutation for hereditary nonpolyposis colorectal cancer who were 25 years of age.
The same mutation of the tabby gene is now believed to produce the king cheetah 's coat.
Not to mention tossing persistent mutation and cancer-causing chemicals into our ship 's air and water recyclers.
A chemo-induced gene mutation can happen when the original chemo received does not work.
In some cases a single gene mutation has quite clear-cut consequences.
Copying by reverse transcriptase is prone to errors, leading to a high mutation rate and appearance of drug resistant clones.
The second mutation introduces a premature stop codon in the mature protein 34.
Such a mutation could for example be in one of the DNA-binding helices introducing a kink in a normally straight and rigid helical conformation.
The p53 gene mutation was detected by fluorescence-based polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) methods.
Cystic fibrosis A description of the common disease causing mutation in Cystic Fibrosis with links to many other resources.
For example we found how patients carrying a particular mutation in a cytokine receptor develop inflammation.
Genetic characterization of the legs at odd angles angles locus, a new mutation causing motor neuron degeneration in a gene dose dependent manner.
A mutation in a receptor for the neurotransmitter dopamine has been found on chromosome 11 or 18.
Typically a mutation in one of these genes causes exon skipping with the deletion of exon 6 from the corresponding mRNA.
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
The Tomorrow People were wrong, a mutation, a freak of nature.
In AA to LA, John Sutherland examines the exotic mutation of the movement in the hothouse atmosphere of southern California.
It is therefore not surprising that inactivating mutation in CLK results in drastic phenotypes.
A clutch of 4-6 white eggs are laid and incubated for 19-20 days. A Lutino color mutation is known but still remains fairly uncommon.
Alteration of either gene number or arrangement can result in mutation (a change in the inheritable traits).
The risk of a parent with the gene passing the mutation on to a child is 50% (autosomal dominant inheritance).
The catalysts of that drastic mutation were the necessary protection of the projected isthmian canal and Germany 's aggressiveness in the Caribbean.
However, with no planktonic larva the dispersal of the mutation will be slow.
Analysis of a single gene for an unknown mutation may take many dozens of man-hours of laboratory work.
Therefore mutation provides a mechanism for adding random genetic material into the chromosome by changing one or more of the gene values at random.
Affinity maturation is a consequence of somatic mutation in Ig gene segments.
Of the 10 related women without the familial mutation, only 2 had clearly enhanced micronucleus frequencies.
Williamson C. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
Monogenic diabetes is diabetes caused by a mutation in a single gene.
Not everyone who has inherited a genetic mutation for Gaucher disease from both parents has symptoms.
The attenuating mutation at residue 91 in VP3 is shown in cyan, and all suppressor mutations are shown in white.
More recently, I have been involved in the detailed determination of gene function through induced mutation of the genes encoding renin.
No point mutation in exons 20 to 24 and their flanking introns were found in any of the 35 patients.
A mutation in a patterning gene could give rise to a simple heart defect, not a full scale patterning defect.
However a gap remained between linking a genetic mutation to the outcome of the disease.
That is, women with negative results for BRCA1 mutation are still at risk of cancer.
Negative results are available for a gene mutation assay in Salmonella.
Should cancers in mutation carriers be managed differently from sporadic cases?
Missense mutation analysis This project is investigating the application of bioinformatic tools to determine the pathogenicity of unclassified missense mutations.
The survival rate in the 24 patients with p53 mutation did not differ significantly from that in the 16 patients without p53 mutation.
Many members of Li-Fraumeni families have a germline mutation of the TP53 gene.
Importantly, in rare families, a gene mutation has been shown to cause the abnormal build up of tau protein in the brain.
By contrast, a woman with a heteroplasmic mtDNA mutation, may transmit a variable amount of mutated mtDNA to her children.
Using advanced forms of sequencing, they were able to identify a nonsense mutation, R501X, in affected individuals.
AB - PURPOSE: To identify the mutation in the RB1 gene in a Syrian family showing incomplete penetrance of retinoblastoma (RB).
A better understanding of the factors that underlie variable penetrance in mutation carriers is needed to augment our ability to counsel individual women.
If a mutated allele is fully penetrant this means all individuals who have this mutation will develop the disease.
In addition they include a mutation that renders the subunit resistant to the actions of pertussis toxin.