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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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Bibliografiske detaljer
Udgivet i:JCI Insight
Main Authors: Yi, Jae-Sung, Perla, Sravan, Enyenihi, Liz, Bennett, Anton M.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2020
Fag:
Online adgang: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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