Zobrazeno 1 - 1
of 1
pro vyhledávání: '"MESH: Isaacs Syndrome"'
Autor:
Morgane Stum, Arnaud Ferry, Frédédrique Rene, Christophe Marcel, Andoni Echaniz-Laguna, Véronique Bernard, Claire-Sophie Davoine, Bertrand Fontaine, Eric Krejci, Sophie Nicole, Alban Vignaud, Marie Bangratz, Emmanuelle Girard, Jordi Molgó, Marc Herbin
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (20), pp.3166-79. 〈10.1093/hmg/ddn213〉
Human Molecular Genetics, 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩
Human Molecular Genetics, Oxford University Press (OUP), 2008, 17 (20), pp.3166-79. 〈10.1093/hmg/ddn213〉
International audience; Schwartz-Jampel syndrome (SJS) is a recessive neuromyotonia with chondrodysplasia. It results from hypomorphic mutations of the gene encoding perlecan, leading to a decrease in the levels of this heparan sulphate proteoglycan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e340a9cdbab7dbfe8229a3bd4015c047
https://hal.science/hal-00335149
https://hal.science/hal-00335149