MYH9-related disease: Report on five German families and description of a novel mutation

Annals of Hematology

Volumn 89, Issue 10, 2010, Pages 1057-1059

  Savoia, Anna ^a   Germeshausen, Manuela ^b   De Rocco, Daniela ^a   Henschel, Bettina ^c   Kratz, Christian P ^d   Kuhlen, Michaela ^e   Rath, Bettina ^f   Steuhl, Klaus Peter ^g   Wermes, Cornelia ^b   Ballmaier, Matthias ^b  

^a UNIVERSITY OF TRIESTE   (Italy)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c Marienhospital Gelsenkirchen GmbH   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f UNIVERSITY OF MÜNSTER   (Germany)

^g UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; MYOSIN 9; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN IIA; UNCLASSIFIED DRUG; MOLECULAR MOTOR; MYH9 PROTEIN, HUMAN;

ADULT; AGED; AUTOSOMAL DOMINANT DISORDER; BLEEDING TENDENCY; CARBOXY TERMINAL SEQUENCE; CATARACT; CHILD; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; FAMILY STUDY; FATHER; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GERMANY; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LETTER; MYH9 RELATED DISEASE; NEUTROPHIL; NONSENSE MUTATION; PRIORITY JOURNAL; PROGNOSIS; PROTEIN AGGREGATION; PROTEIN DOMAIN; RETINA DETACHMENT; SEQUENCE ANALYSIS; SPLENECTOMY; THROMBOCYTE COUNT; THROMBOCYTOPENIA; CHROMOSOME DISORDER; GENETICS; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY;

ADULT; AGED; CHILD; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; GERMANY; HUMANS; INFANT; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; YOUNG ADULT;

EID: 77956658476     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-010-0928-y     Document Type: Letter

References (4)

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