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Characterization of Novel Mutations in the TEL-patch Domain of the Telomeric Factor TPP1 Associated with Telomere Biology Disorders

Alexis Bertrand,Ibrahima Ba,Laetitia Kermasson, Vithura Pirabakaran, Noemie Chable,Elodie Lainey,Christelle Menard,Faten Kallel,Capucine Picard,Sondes Hadiji,Nathalie Coolen-Allou,Elodie Blanchard,Jean-Pierre de Villartay,Despina Moshous,Marie Roelens,Isabelle Callebaut,Caroline Kannengiesser,Patrick Revy

HUMAN MOLECULAR GENETICS（2024）

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关键词
Telomere,inherited bone marrow failure,pulmonary fibrosis,TPP1,telomerase
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