Zobrazeno 1 - 4
of 4
pro vyhledávání: '"J. E. Poncin"'
Publikováno v:
Human genetics. 85(4)
A sample of 107 Belgian cystic fibrosis patients has been tested for the presence of the delta F508 deletion. We have shown that 166 (78%) of the CF chromosomes presented the deletion, and that 97% of the deleted chromosomes and 50% of the non-delete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddbcb02c638f2012e53b04bffc36ee3f
https://pubmed.ncbi.nlm.nih.gov/2210745
https://pubmed.ncbi.nlm.nih.gov/2210745
Autor:
Joerg Schmidtke, Maurice Super, Dicky J. J. Halley, M. Schwartz, Dimitris Loukopoulos, Marcella Devoto, J. E. Poncin, Martin Farrall, Charles H.C.M. Buys, Michael Krawczak
Publikováno v:
Prenatal Diagnosis, 8(8), 619-624. Wiley-Blackwell
This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389e9244e2408b9bc55bdfc71739ebfd
https://doi.org/10.1002/pd.1970080809
https://doi.org/10.1002/pd.1970080809
Autor:
Gilbert Vassart, Erica M. Bühler, Dicky J. J. Halley, Albert Schinzel, D. Frey, K. Fryburg, T. Darnedde, V. Neubauer, I. Libaers, B. Pape, Mildred A. Schwartz, Joachim Hundrieser, Ben A. Oostra, M. Alkan, W. Lissens, Burkhard Tümmler, M. Chemke, J. E. Poncin, J. Domagk, J. Morreau, L. Ladanyi, Michael Krawczak, Naseem Malik, M. Bonduelle, Philippe Simon, Marco Mächler, R. Voss, Jörg Schmidtke, Friedrich K. Trefz, Wolfgang Engel
Publikováno v:
Human genetics. 76(4)
The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab57f928130d0f204b24bd569153c151
https://pubmed.ncbi.nlm.nih.gov/2886421
https://pubmed.ncbi.nlm.nih.gov/2886421
Publikováno v:
European journal of biochemistry. 140(3)
Apolipoprotein A-I, the major protein in mammalian high-density lipoprotein, acts as a cofactor for lecithin-cholesterol acyltransferase during the formation of cholesterol ester and as such, is thought to promote cholesterol efflux from peripheral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7ab0f1331255521ae2b50698d2a0d7b
https://pubmed.ncbi.nlm.nih.gov/6426956
https://pubmed.ncbi.nlm.nih.gov/6426956