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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Samuel Deutsch, Alexandra Rideau, Marie-Luce Bochaton-Piallat, Giuseppe Merla, Antoine Geinoz, Giulio Gabbiani, Torsten Schwede, Thomas Matthes, Stylianos E. Antonarakis, Photis Beris
Journal: Blood
Blood (2003) 102 (2): 529–534.
https://doi.org/10.1182/blood-2002-09-2783
Published: 2003