Mutation of the β1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

Blood

Volumn 113, Issue 2, 2009, Pages 458-461

  Kunishima, Shinji ^a   Kobayashi, Ryoji ^b   Itoh, Tomohiko J ^c   Hamaguchi, Motohiro ^a   Saito, Hidehiko ^d  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

^d NAGOYA CENTRAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 1 TUBULIN; BETA TUBULIN; MUTANT PROTEIN; UNCLASSIFIED DRUG; TUBULIN;

ARTICLE; BLOOD; BLOOD SMEAR; BONE MARROW EXAMINATION; CD34 SELECTION; CELL CULTURE; CHILD; CHINESE HAMSTER; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IN VITRO GENE TRANSFER; MALE; MEGAKARYOCYTE; MICROTUBULE; MICROTUBULE ASSEMBLY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE; THROMBOCYTE AGGREGATION; THROMBOCYTE RELEASE REACTION; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; TUBB1 GENE; AMINO ACID SUBSTITUTION; ANIMAL; CASE REPORT; CRICETULUS; GENETIC DISORDER; GENETICS; HAMSTER; METABOLISM; MISSENSE MUTATION;

AMINO ACID SUBSTITUTION; ANIMALS; BLOOD PLATELETS; CHILD; CHO CELLS; CRICETINAE; CRICETULUS; GENETIC DISEASES, INBORN; HETEROZYGOTE; HUMANS; MALE; MEGAKARYOCYTES; MICROTUBULES; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; TUBULIN;

EID: 58849100937     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-06-162610     Document Type: Article

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