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Ian S. Mackay
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Journal Articles

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Clinical Trials & Observations
Maria E. Bernabéu-Herrero, Dilipkumar Patel, Adrianna Bielowka, JiaYi Zhu, Kinshuk Jain, Ian S. Mackay, Patricia Chaves Guerrero, Giulia Emanuelli, Luca Jovine, Michela Noseda, Stefan J. Marciniak, Micheala A. Aldred, Claire L. Shovlin
Journal: Blood
Blood (2024) 143 (22): 2314–2331.
https://doi.org/10.1182/blood.2023021777
Published: 2024
Includes: Supplemental data