Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sandra Blumenfeld"'
Autor:
Solange Pannetier, Sylvie Jacquot, Albert Schinzel, Karine Merienne, André Hanauer, Sandra Blumenfeld
Publikováno v:
European Journal of Human Genetics. 6:578-582
We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. Western blot analysis, using an antibody directed against the C-terminus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac3f3064c27b89deaf2b54225c642c2f
https://doi.org/10.1038/sj.ejhg.5200230
https://doi.org/10.1038/sj.ejhg.5200230
Autor:
Sandra Blumenfeld, I. Oberlé, Niels Tommerup, Célia Delozier-Blanchet, Dominique Heitz, Marie Françoise Croquette, Carl Birger van der Hagen, François Rousseau, Jean-Louis Mandel, Valérie Biancalana, Pierre Jalbert, Simon Gilgenkrantz, Christine Kretz, Marie-Antoinette Voelckel, Joelle Boué
Publikováno v:
The New England journal of medicine. 325(24)
The fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome (in Xq27.3). Affected persons have both a full mutation and abnormal DNA methyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17026e6488c812e1122dd3705a6deb7b
https://pubmed.ncbi.nlm.nih.gov/1944474
https://pubmed.ncbi.nlm.nih.gov/1944474