Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Margit Ritzka"'
Autor:
Margit Ritzka, Stefan Woelfl, H. J. Veeze, S. Jansen, Achim D. Gruber, Burkhard Tümmler, Frauke Stanke, Dicky J. J. Halley, Larissa Pusch
Publikováno v:
Human Genetics, 115, 483-491. Springer-Verlag
To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e6358661eba1b53cd4c6d35b2f7426
https://doi.org/10.1007/s00439-004-1190-y
https://doi.org/10.1007/s00439-004-1190-y
Publikováno v:
Genome Letters. 2:149-154
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54ef3367e79ad18c9c4b0e9cecf576e8
https://doi.org/10.1166/gl.2003.034
https://doi.org/10.1166/gl.2003.034
Publikováno v:
Genome Letters. 1:131-139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b6bf1bf3ce852e7f881365219f5bdc9
https://doi.org/10.1166/gl.2002.014
https://doi.org/10.1166/gl.2002.014
Autor:
Hannah Blau, J. Bijman, Frauke Stanke, H. K. Harms, Inez Bronsveld, Thilo Dörk, G. Mastella, Manfred Ballmann, Ulrike Laabs, Margit Ritzka, Burkhard Tümmler, Hans-Georg Posselt, Nico Derichs, Sabina Gallati, H. J. Veeze, Matthias Griese
Publikováno v:
Journal of medical genetics. 45(1)
Background: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases. Methods: 17 individuals who are homozygous for deletions, missense, s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23acb021b4576f69d87e909acef71059
https://pubmed.ncbi.nlm.nih.gov/18178635
https://pubmed.ncbi.nlm.nih.gov/18178635
Autor:
B. Siebert, Burkhard Tümmler, S. Jansen, Margit Ritzka, Andrea van Barneveld, Manfred Ballmann, E.W. Kolbe, Ulrike Laabs, Frauke Stanke, I. Leverköhne
Publikováno v:
Journal of Cystic Fibrosis. 5:S5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ccda4056df9135a78e57ebfe4582d8e
https://doi.org/10.1016/s1569-1993(06)80019-6
https://doi.org/10.1016/s1569-1993(06)80019-6