Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maurice Super"'
Autor:
Michele Ramsay, Robert Williamson, Xavier Estivill, Brandon J. Wainwright, Meng-Falt Ho, Stephanie Halford, Juha Kere, Erkki Savilahti, Albert de la Chapelle, Marianne Schwartz, Martin Schwartz, Maurice Super, Peter Farndon, Carol Hardlng, Linda Meredith, Layla Al-Jader, Claude Ferec, Mirellle Claustres, Teresa Casals, Virginia Nunes, Paolo Gasparini, Anna Savoia, Pier Franco Pignatti, Giuseppe Novelli, Massimo Bennarelli, Bruno Dallapiccola, Luba Kalaydjieva, Peter J. Scambler
Publikováno v:
Scopus-Elsevier
Positional cloning involves first finding linkage between an inherited phenotype (such as a disease) and a DNA marker, followed by the use of a variety of physical and genetic mapping techniques to move from linkage to mutation. If there is a founder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db222f8243eb4dd163961fc1392f93d
https://ora.ox.ac.uk/objects/uuid:18ed8428-cbf7-41b9-bfda-cd94313251ad
https://ora.ox.ac.uk/objects/uuid:18ed8428-cbf7-41b9-bfda-cd94313251ad
Publikováno v:
Human Mutation. 11:152-157
We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, an
Autor:
Yumiko Ishikawa Brush, Beat Steinman, Donald R. Love, D. Recan, Maurice Super, Jamel Chelly, John R.W. Yates, Anthony P. Monaco, Armand Bottani, J.Michael Connor, Jean-Louis Chaussain, Christine A. Oley, Ann P. Walker, Kay E. Davies, Jean-Claude Kaplan, David A. Price
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e74f4b573339d731f957cdbc991771
https://doi.org/10.5167/uzh-155011
https://doi.org/10.5167/uzh-155011
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
Publikováno v:
Scopus-Elsevier
Three independent observers assessed the discriminating power of serum isoelectric focusing in detecting the presence of the cystic fibrosis gene. On the basis of average scores, four out of 23 cystic fibrosis patients, six out of 22 heterozygotes, a