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pro vyhledávání: '"Henrike Haltern"'
Autor:
Carolin Knauer, Henrike Haltern, Eric Schoger, Sebastian Kügler, Lennart Roos, Laura C. Zelarayán, Gerd Hasenfuss, Wolfram-Hubertus Zimmermann, Bernd Wollnik, Lukas Cyganek
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102123- (2024)
Gene variants in LZTR1 are implicated to cause Noonan syndrome associated with a severe and early-onset hypertrophic cardiomyopathy. Mechanistically, LZTR1 deficiency results in accumulation of RAS GTPases and, as a consequence, in RAS-MAPK signaling
Externí odkaz:
https://doaj.org/article/8ebba1ffab3c41c4a0a2fa619386fcc5