Ontology highlight
ABSTRACT:
SUBMITTER: Ihara K
PROVIDER: S-EPMC15907 | biostudies-literature | 1999 Mar
REPOSITORIES: biostudies-literature
Ihara K K Ishii E E Eguchi M M Takada H H Suminoe A A Good R A RA Hara T T
Proceedings of the National Academy of Sciences of the United States of America 19990301 6
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Our previous hematological analysis indicated similarities between human CAMT and murine c-mpl (thrombopoietin receptor) deficiency. Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with CAMT ...[more]