Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder that presents with cardio-cutaneous-craniofacial defects. Hypertrophic cardiomyopathy (HCM) represents the major life-threatening presentation in NSML. Mutations in the PTPN11 gene that encodes for the protein tyro...

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Bibliografiska uppgifter
I publikationen:JCI Insight
Huvudupphovsmän: Yi, Jae-Sung, Perla, Sravan, Enyenihi, Liz, Bennett, Anton M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2020
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7455087/
https://ncbi.nlm.nih.gov/pubmed/32584792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.137753
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