Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis

British Journal of Haematology

Volumn 160, Issue 4, 2013, Pages 521-529

  Kobayashi, Yoshiyuki ^a,b   Matsui, Hirotaka ^a   Kanai, Akinori ^a   Tsumura, Miyuki ^b   Okada, Satoshi ^b   Miki, Mizuka ^b   Nakamura, Kazuhiro ^b   Kunishima, Shinji ^c   Inaba, Toshiya ^a   Kobayashi, Masao ^b  

^a HIROSHIMA UNIVERSITY   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION   (Japan)

Author keywords

Autosomal dominant inheritance; Familial thrombocytopenia; Inhibition of RhoA; Integrin 3 L718P mutation; Whole exome sequencing

Indexed keywords

ALPHA2B INTERFERON; BETA3 INTEGRIN; RHOA GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANISOCYTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; ERYTHROCYTE DEFORMABILITY; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; INTEGRIN BETA3 GENE; MALE; NONHUMAN; PATHOGENESIS; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE AGGLUTINATION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; ERYTHROCYTES, ABNORMAL; EXOME; FEMALE; HUMANS; INTEGRIN BETA3; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RHOA GTP-BINDING PROTEIN; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA;

EID: 84873080919     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12160     Document Type: Article

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