Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)

Human Genetics

Volumn 107, Issue 3, 2000, Pages 225-233

  Tonelli, R ^a   Scardovi, A L ^a   Pession, A ^a   Strippoli, P ^a   Bonsi, L ^a   Vitale, L ^a   Prete, A ^a   Locatelli, F ^a   Bagnara, G P ^a   Paolucci, G ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; CYSTEINE; CYTOKINE RECEPTOR; LEUCINE; PROLINE; THROMBOPOIETIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW BIOPSY; BRAIN CALCIFICATION; CASE REPORT; CHILD; CONGENITAL BLOOD DYSCRASIA; DISEASE ASSOCIATION; EXON; HETEROZYGOSITY; HUMAN; MALE; MEGAKARYOCYTE; NUCLEOTIDE SEQUENCE; PETECHIA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SEQUENCE ANALYSIS; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

AMINO ACID SEQUENCE; BONE MARROW CELLS; CASE REPORT; CHILD, PRESCHOOL; COMPARATIVE STUDY; FEMALE; HETEROZYGOTE; HUMAN; ITALY; MALE; MEGAKARYOCYTES; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTO-ONCOGENE PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T; THROMBOCYTOPENIA;

EID: 0033781085     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000357     Document Type: Article

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