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1. Both patients described were heterozygous for the missense mutation at codon 200 of the prion protein gene.
2. It is a missense mutation in exon III.
3. A missense mutation(G1010A) in exon 3 of HR was identified in the patient's father.
4. We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional.
5. Both frameshift and missense mutations can be suppressed by intragenic suppressors.
6. Missense mutation --- A mutation that changes a codon specific for one amino acid to specify another amino acid.
7. In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP.
8. Missense mutation A point mutation that causes a change in one amino acid of a protein.
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9. The deletion mutation and missense mutation of COL7A1 gene result in the specific mutation in patients with clinical symptoms.
10. There were 2 missense mutations between yak and Chinese Simmental, 5 between yak and mall-tail Han sheep, more than that between yak and Chinese Simmental.
11. Conclusion A novel missense mutation, G343V, was identified in the ABCD1 gene of a Chinese patient with ALD.
12. Missense mutation led to amino acid substitute at 660th locus, namely, serine which could be phosphorylated of yak and Chinese Simmental substitute to phenylalanine of small-tail Han sheep.
13. The conclusion we obtained from the experiment was that the missense mutation of .
14. Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
15. DNA damage caused by many factors may lead to missense mutation, deletion or illegal recombination.
16. Altogether 14 different mutations were found: two splice site mutations, one frame shift mutation due to an insertion, three nonsense mutations and eight missense mutations.
17. There was a wide spectrum of mutation type including frame shift, nonsense, splice site mutation, in frame insertion or deletion and missense mutations.
18. Lastest, oversea researchers had found that there is one missense mutation high relative with NIDDM patients in GCG R gene.
19. Objective To investigate whether there are as sociations between missense mutation of renin gene and essential hypertension(EH).
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