Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24

European Journal of Haematology

Volumn 83, Issue 3, 2009, Pages 230-234

  Miyazaki, Koji ^a   Kunishima, Shinji ^b   Fujii, Wataru ^c   Higashihara, Masaaki ^a  

^a KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^c Kobe College   (Japan)

Author keywords

Gene deletion; Homologous recombination; Macrothrombocytopenia; MYH9 disorders; Non muscle myosin heavy chain IIA

Indexed keywords

MYH9 PROTEIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN IIA; PREDNISOLONE; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BASOPHIL; BLEEDING TENDENCY; CASE REPORT; CATARACT; CELL INCLUSION; CELL STRUCTURE; CELLULAR DISTRIBUTION; CYTOPLASM; DELETION MUTANT; DISEASE SEVERITY; EXON; GAIT DISORDER; GENE DELETION; GENE IDENTIFICATION; GENE REARRANGEMENT; GENETIC RECOMBINATION; GRANULOCYTE; HEMATURIA; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOFLUORESCENCE; LEUKOCYTE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEINURIA; SEQUENCE HOMOLOGY; STAINING; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

ADULT; CODON; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; RECOMBINATION, GENETIC; SEQUENCE DELETION; THROMBOCYTOPENIA;

EID: 68849126869     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2009.01274.x     Document Type: Article

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