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| 2. |
- Antonarakis, S. E., et al.
(författare)
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Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
- 1995
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
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Tidskriftsartikel (refereegranskat)abstract
- Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
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| 4. |
- Hoff, P, et al.
(författare)
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Single-neutron states in Sn-133
- 1996
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Ingår i: PHYSICAL REVIEW LETTERS. - : AMER INST PHYSICS. - 0031-9007. ; 77:6, s. 1020-1023
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Tidskriftsartikel (refereegranskat)abstract
- The location of several single-neutron states in Sn-133 has been identified. The P-3/2, h(9/2), and f(5/2) states were found at 853.7, 1560.9, and 2004.6 keV, respectively, by measuring gamma rays in coincidence with delayed neutrons following the decay o
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| 5. |
- Aas, AJ, et al.
(författare)
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Quenched E1 transition rates in Th-231
- 1999
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Ingår i: NUCLEAR PHYSICS A. - : ELSEVIER SCIENCE BV. - 0375-9474. ; 654:3-4, s. 499-522
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Tidskriftsartikel (refereegranskat)abstract
- The fast timing beta gamma gamma(t) method has been used to measure lifetimes of the low-lying levels in Th-231 populated in the beta(-) decay of Ac-231. The half-life of the K-pi = 5/2(-) band-head at 185.7-keV was measured as T-1/2 = 1073(79) ps, yieldi
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| 7. |
- Platt, A, et al.
(författare)
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The 4-hydroxy-2-oxovalerate aldolase and acetaldehyde dehydrogenase (acylating) encoded by the nahM and nahO genes of the naphthalene catabolic plasmid pWW60-22 provide further evidence of conservation of meta-cleavage pathway gene sequences.
- 1995
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Ingår i: Microbiology. - : Microbiology Society. - 1350-0872 .- 1465-2080. ; 141 ( Pt 9)
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Tidskriftsartikel (refereegranskat)abstract
- We report the complete nucleotide sequence and over-expression of the nahOM genes for the acetaldehyde dehydrogenase (acylating) and the 4-hydroxy-2-oxovalerate aldolase from the meta pathway operon of the naphthalene catabolic plasmid pWW60-22 from Pseudomonas sp. NCIMB9816. Additional partial sequence analysis of adjacent DNA shows the gene order within the operon to be nahNLOMK, identical to the order found for the isofunctional genes in the meta pathway operons in the toluene/xylene pathway of TOL plasmid pWW0 and the phenol/methylphenol pathway of pVI150. The deduced amino acid sequences of NahO and NahM were significantly homologous to the equivalent enzymes encoded by other Pseudomonas meta pathways, although both were the most divergent in each comparison. The nahOM genes were inserted downstream of the T7 promoter in the expression vector pET3a and similar constructs were also made of the isofunctional regions from pVI150 (dmpFG) and TOL plasmid pDK1 (xyIQK). High expression of all three gene pairs was detected by enzyme assays and by SDS-PAGE.
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