GNE Variants Causing Autosomal Recessive Macrothrombocytopenia Without Associated Muscle Wasting

Shoshana Revel-Vilk,Ela Shai,Ernest Turro,Nivin Jahshan, Esti Hi-Am,Galia Spectre,Hagit Daum,Yossef Kalish,Karina Althaus,Andreas Greinacher,Chaim Kaplinsky,Shai Izraeli,Rutendo Mapeta,Sri V.V. Deevi,Danuta Jarocha,Willem H. Ouwehand,Kate Downes,Mortimer Poncz,David Varon,Michele P. Lambert

Blood（2018）

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摘要

TO THE EDITOR: We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia and mild to moderate bleeding diathesis inherited due to missense mutations in the glucosamine (UDP- N -acetyl)-2-epimerase/ N -acetylmannosamine kinase ( GNE ) gene. Previous reports have

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Human Inborn Errors

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