Deletion mutation
c.1439delA frameshift deletion mutation in familial adenomatous polyposis
... a deletion mutation (Table 3). At present, this mutation had not been recorded in the COSMIC database, and functional studies of amino acid number 480 are unknown (Table ...frameshift deletion ...
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Structure and distribution of an Alu type deletion mutation in Sandhoff disease
... a deletion at the HEXB gene from fibroblasts of a patient with the infantile form of Sandhoff ...The deletion removes approximately 16 kb of DNA including the HEXB promoter, exons 1-5 and part of intron ...
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Intragenic suppression of a deletion mutation of the nonstructural gene of an influenza A virus.
... The nucleotide sequence of the NS gene segment of the 143-1 virus was identical to that of the A/Alaska/77 virus except for the 36-nucleotide deletion, confirming that additional mutatio[r] ...
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Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications
... 11 deletion mutation described in the first family with an identified germline mutation in familial GIST, does not seem to be required for the familial GIST syndrome as a similar clinical phenotype ...
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Transdominant inhibition of wild-type human immunodeficiency virus type 2 replication by an envelope deletion mutant.
... The processing and transport of the mutant glycoprotein were unaffected by the deletion mutation as evidenced by the presence of gpl20 in the cell medium.- Furthermore, the coexpression [r] ...
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In Vivo Translation of the Triple Gene Block of Potato Virus X Requires Two Subgenomic mRNAs
... ORF is translated from a bicistronic mRNA. Thus, six PVX.GFP mutants (Fig. 3) containing mutations in the 12K ORF were prepared by PCR mutagenesis (17). The 12FS mu- tant has a deletion mutation identical ...
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Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene
... point mutation substi- tuting the adjacent Tyr to His at codon 618 also causes Liddle disease and enhances channel activity when the mutant is ex- pressed in Xenopus ...Y618H mutation was func- tionally ...
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<p>Antimicrobial Resistance And Molecular Characteristics Among <em>Neisseria gonorrhoeae</em> Clinical Isolates In A Chinese Tertiary Hospital</p>
... (A)-nucleotide deletion mutation in the mtrR promoter region, a G45D mutation in the mtrR coding region, a point mutation in rplD, and an A2047G mutation in 23S rRNA alleles were ...
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Use of pulsed field gel electrophoresis and transposon mutagenesis to estimate the minimal number of genes required for motility in Caulobacter crescentus.
... et al. DNA fragments are separated by PFGE and identified by the presence of an insertion or deletion mutation or by hybridization to radioactive probe DNA. If the genetic[r] ...
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An Authentic 3′ Noncoding Region Is Necessary for Efficient Poliovirus Replication
... of deletion mu- tant virion RNA over that of the deletion mutation transcript RNA remains ...of deletion mutation RNAs with 16 (data not shown), 27, and 51 (this study) adenosine ...
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Structure-based systematic isolation of conditional-lethal mutations in the single yeast calmodulin gene.
... The design of these studies takes advantage of two traits of vertebrate calmodulin: expres- sion of vertebrate calmodulin complements the yeast cmdl deletion mutation (and, as[r] ...
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MECHANISMS OF SPONTANEOUS AND INDUCED FRAMESHIFT MUTATION IN BACTERIOPHAGE T4
... If mutagenesis is due to in- tercalation within the misaligned stretch proposed in the bulge model, the frequency of induced addition and deletion mutation ought [r] ...
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Deletion Mapping of the Head Tilt (het) Gene in Mice: A Vestibular Mutation Causing Specific Absence of Otoliths
... Figure 3.—Deletion map- ping of head tilt. The struc- ture of the proximal region of chromosome 17 is shown at the top, with relevant loci shown (distances not to scale). Horizontal solid line, minimum amount of ...
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Genetic mapping of regA mutants of bacteriophage T4D.
... We mutation were a small deletion, other point mutants at that site might define two or more observed that regA 1 produced a white halo close but different sites within the deletion re- [r] ...
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Thesis
... a deletion of the minor adenylate cyclase cyaA and a synthetic lacP1:ΔlacI-lacZ reporter system that is used as a surrogate readout for intracellular cAMP production based on the ...
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Mutations in the Endodomain of Sindbis Virus Glycoprotein E2 Define Sequences Critical for Virus Assembly
... Envelopment of Sindbis virus at the plasma membrane is a multistep process in which an initial step is the association of the E2 protein via a cytoplasmic endodomain with the preassembled nucleocapsid. Sindbis virus is ...
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Original Article A novel intragenic microdeletion in RUNX2 in a Chinese family with cleidocranial dysplasia
... No mutation was found in the 8 coding exons of RUNX2 by sequencing ...novel deletion in one allele of the RUNX2 gene, which emphasizes the contribution of such deletions in RUNX2 to the etiology of this ...
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Regulation of Virus Release by the Macrophage-Tropic Human Immunodeficiency Virus Type 1 AD8 Isolate Is Redundant and Can Be Controlled by either Vpu or Env
... The observation that AD8 has evolved a mechanism that preserves efficient virus secretion even when Vpu function is turned off could be an indication that under certain circum- stances, elimination of Vpu may constitute ...
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The SUP35 omnipotent suppressor gene is involved in the maintenance of the non-Mendelian determinant [psi+] in the yeast Saccharomyces cerevisiae.
... Another feature that distin- guishes the sup35-AN deletion alleles from the PNM2 point mutation is that, unlike deletion mutations, point mutation in the N-terminal part of t[r] ...
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A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report
... Database website. However, CYP11B1 mutations may also occur as a result of aberrant incorporation/chime- rism of the gene with the highly homologous aldoster- one synthase (CYP11B2) gene sequence. These CYP11B2/CYP11B1 ...
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