[PDF] Top 20 Identification and characterisation of eight novel SERPINA1 Null mutations
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Identification and characterisation of eight novel SERPINA1 Null mutations
... DNA sequencing of the 4 exons of SERPINA1 in the index case (7.1 – IIF, Table 2) revealed a homozygous deletion of a single G in codon 337 (exon V), occurring in the background of a normal M2 allele ... See full document
9
Isolation, identification and characterisation of diesel degrading bacteria
... The seven Micrococcus, Pseudomonas, Flavobacterium, Serratia, Moraxella, Bacillus and Klibesella different species Bacillus species, Klebsiella species, Citrobacter and Pseudomonas speci[r] ... See full document
6
Identification and characterisation of novel shellfish allergens for improved diagosis
... of eight epitopes showed a difference in sequence identities among arthropods and molluscs; however a strong conservation was observed within the specific ... See full document
292
Transcription of the utrophin gene: Identification and characterisation of novel transcripts
... mice expression of En-2 sequences by gene targeting, under the control of the En-1 promoter, led to the rescue of the En-1 mutant phenotype (Hanks at sL, 1995). Therefore En-2 can functionally replace En-1. The only, but ... See full document
274
Identification and characterisation of a novel anti viral peptide against avian influenza virus H9N2
... recognition sites KpnI and XhoI restriction enzymes in their forward and reverse primers respectively. The pep- tide gene (P1) was amplified including the N1 domain of the P3 protein of the recombinant phage using the ... See full document
12
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort
... significant difference in VWF retained within the cell (Fig. 1). The IC had a normal multimer profile, however homozygous expression of recombinant p.S49R appeared to indicate a loss of high molecular weight multimers ... See full document
22
ISOLATION, IDENTIFICATION AND CHARACTERISATION OF A NOVEL PROBIOTIC STRAIN (LACTOBACILLUS PARACASEI KUMBB005) FROM COW MILK SAMPLES AND ITS ANTIBACTERIAL ACTIVITY
... Subsequent genetic level identification of the 4 selected bacterial isolates, KUMBB005 was found to be more dynamic and complete the characteristics of Lactobacillus sp., therefore KUMBB005 strain was subjected to ... See full document
14
Identification and Structural Characterisation of Novel Outer Membrane Proteins in the genus Borrelia
... have eight strands shows that the change to amino-acid sequence is exactly the same in this area in all three sequences, with three minor exceptions: positions 162, 176 and ...both eight and nine stranded ... See full document
239
Structure-based identification and characterisation of structurally novel human P2X7 receptor antagonists
... disease-associated mutations on P2X7R function [7,35,2,24] and the striking species difference of P2X7R antagonists ...structure-based identification of small molecules which bind to this ATP-binding pocket ... See full document
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Characterisation of a novel nucleorhabdovirus infecting alfalfa (Medicago sativa)
... Institute identification number; JKI: Julius Kühn Institute; kb: kilobase; kDa: kilo Dalton; kV: kilovoltage; l: 3 ′ leader; L: RNA-dependent RNA polymerase; LBVaV: lettuce big-vein associated virus; LEV: lucerne ... See full document
14
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
... the identification of mutations underlying the enzyme defect and resulting in MPS I clinical ...100 mutations have been reported in patients with the MPS I subtypes (Human Gene Mutation Database; ... See full document
6
Suppressors of ssy1 and ptr3 Null Mutations Define Novel Amino Acid Sensor-Independent Genes in Saccharomyces cerevisiae
... illuminate novel aspects of ...E mutations block endosome-to-vacuole transport; char- pAH001 and for help in showing conclusively that BUL1 is allelic ... See full document
16
Characterization of mutations in <em>PRNP</em> (prion) gene and their possible roles in neurodegenerative diseases
... published mutations, several novel missense and silent variants were discovered in these individuals in PRNP ...the novel missense variants, if they could be associated with any kinds of disease ... See full document
19
Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
... Congenital fibrinogen deficiency is considered as rare coagulation disorder but its incidence is growing higher in those regions where consanguineous partner- ships are common [14, 15]. Pakistan is the country with high ... See full document
8
Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease
... the novel missense mutation, ...the novel N-glycoslyation mutation, c.1564A > G (p.N522S), and the novel seven-base dele- tion in exon 6, ... See full document
6
The Genetic Basis of Resistance to Anticoagulants in Rodents
... tion Tyr139Cys, an amplification refractory mutation system blood clotting response test at the time of sampling. (ARMS)-PCR test was developed (Ye et al. 2001) using the Subsequent analysis of the VKORC1 gene from ... See full document
10
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations
... CFTR mutations, R334W, K710X, may be specific to the culturally homogenous Kurdish ...identified mutations between studied population and ...some mutations such as R1162X and S466X previously ... See full document
7
Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis
... point mutations identified were confirmed by sequencing the opposite strands and comparing with the relative wild type sequences published in gene data bank (CLCN7 Ref NG_007567; TCIRG1 Ref ...missense ... See full document
6
Identification and Analysis of Mutations in bob, Doa and Eight New Genes Required for Oocyte Specification and Development in Drosophila melanogaster
... The Drosophila oocyte develops from a cluster of 16 interconnected cells that derive from a common progenitor. One of these cells, the oocyte, arrests in meiosis. The other cells endoreplicate their DNA and produce mRNAs ... See full document
12
Identification of Novel genotypes of Human Respiratory Syncytial Virus (RSV)A strain circulating in Sudan
... Five Sudanese RSV strains are grouped together, this clarify that the Sudanese strains are similar to each other and differ from other strains found in gene bank. Three strains were closer to the previously described ... See full document
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