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

Blood

Volumn 102, Issue 2, 2003, Pages 529-534

  Deutsch, Samuel ^b   Rideau, Alexandra ^b   Bochaton Piallat, Marie Luce ^b   Merla, Giuseppe ^b   Geinoz, Antoine ^b   Gabbiani, Giulio ^b   Schwede, Torsten ^b   Matthes, Thomas ^b   Antonarakis, Stylianos E ^b   Beris, Photis ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; MESSENGER RNA;

ALLELIC IMBALANCE; AMINO ACID SUBSTITUTION; ARTICLE; CYTOSKELETON; HUMAN; MAY HEGGLIN ANOMALY; MEGAKARYOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; THROMBOCYTOPOIESIS;

EID: 0037480960     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-09-2783     Document Type: Article

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