| 1. |
- Da Via, C, et al.
(författare)
-
Lightwave Analogue Links For LHC Detector Front-ends
- 1994
-
Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 344:1, s. 199-211
-
Tidskriftsartikel (refereegranskat)abstract
- The requirements on optical links for transferring analog and digital signals from the detector front-ends to the readout electronics at future high-luminosity colliders are reviewed. The advantages of external modulation techniques are discussed. An outline is given of the the R&D programme recently started at CERN by a collaboration involving high-energy physics institutes, optoelectronics research laboratories and industry, in order to develop electro-optic intensity modulator arrays, particularly for analogue applications, and to investigate the feasibility of volume production. The design of multichannel demonstrators in lithium niobate and III-V semiconductor technology is described. Preliminary results of the performance measurements are presented.
|
|
| 2. |
- Ljung, R., et al.
(författare)
-
Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion
- 1992
-
Ingår i: European Journal of Haematology. - 0902-4441. ; 49:4, s. 215-218
-
Tidskriftsartikel (refereegranskat)abstract
- Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.
|
|
| 3. |
- Montandon, A. J., et al.
(författare)
-
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
- 1992
-
Ingår i: Human Genetics. - 0340-6717. ; 89:3, s. 319-322
-
Tidskriftsartikel (refereegranskat)abstract
- Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the families registered at the Malmö Haemophilia Centre. These represent a complete sample of the Swedish haemophilia B population (45 out of 77 pedigrees) and contain 23 families with a single affected male. Fifteen of these males had mothers available for study, and of these mothers, 13 had parents available for study. We show that 3 of the above patients and 10 of their mothers carry new mutations, and by extrapolation calculate that 8 males and 98 females should carry new haemophilia B mutations in the Swedish population (8.52 × 106 individuals). This leads to the following estimate of the mutation rates: overall μ = 4.1 × 10-6; male specific v = 2.1 × 10-5; and female specific u = 1.9 × 10-6. The ratio of such male to female specific mutation rates is thus v/u = 11.
|
|
