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pro vyhledávání: '"Maurice Super"'
Autor:
Maurice Super, Martin Schwarz
Publikováno v:
European Journal of Pediatrics. 151:108-111
A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diag
Publikováno v:
Clinical science (London, England : 1979). 83(3)
An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through
Autor:
Clive R. Newton, Lesley Heptinstall, Claire Summers, Martin Schwarz, Alexander F. Markham, Maurice Super
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781468459364
During the development of an amplification refractory mutation system (ARMS)1 assay for the detection of the DeltaF508 mutation2,3,4 and corresponding normal locus in cystic fibrosis we discovered a family in which a further variant of the sequence e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3f350bd33d0bf951a70551cf5e2e8b4
https://doi.org/10.1007/978-1-4684-5934-0_48
https://doi.org/10.1007/978-1-4684-5934-0_48
Autor:
Maurice Super, Andrew P Read, RJ Harris, R G Elles, Martin Schwarz, A. J. Ivinson, J. Clayton Smith
Publikováno v:
Journal of Medical Genetics. 26:426-430
A particular haplotype defined by probes XV2c, KM19, and CS.7 at the D7S23 locus was found on 90% of chromosomes which carry cystic fibrosis (CF), but on only 11% of normal chromosomes in a UK sample of CF carriers. We show how such data can be used