Germinal mosaicism in MYH9 disorders: A family with two affected siblings of normal parents

British Journal of Haematology

Volumn 145, Issue 2, 2009, Pages 260-262

  Kunishima, Shinji ^a   Takaki, Kazutaka ^a   Ito, Yoshimi ^a   Saito, Hidehiko ^b  

^a NATIONAL HOSPITAL ORGANIZATION   (Japan)

^b NAGOYA CENTRAL HOSPITAL   (Japan)

Author keywords

Macrothrombocytopenia; May Hegglin anomaly; MYH9; MYH9 disorders; Nonmuscle myosin heavy chain IIA

Indexed keywords

MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 9; MYOSIN IIA; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; AUTOSOME MOSAICISM; BLOOD SMEAR; CASE REPORT; CLINICAL FEATURE; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GONADAL MOSAICISM; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INFORMED CONSENT; LETTER; MALE; MAY HEGGLIN ANOMALY; MICROSATELLITE MARKER; MYH9 DISORDER; PRIORITY JOURNAL; SIBLING;

ADOLESCENT; FEMALE; GERM-LINE MUTATION; HAPLOTYPES; HUMANS; MALE; MOLECULAR MOTOR PROTEINS; MOSAICISM; MYOSIN HEAVY CHAINS; PEDIGREE; THROMBOCYTOPENIA;

EID: 63149130853     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2009.07584.x     Document Type: Letter

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