A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms

International Journal of Hematology

Volumn 100, Issue 2, 2014, Pages 200-205

  Kato, Io ^a   Takagi, Yuki ^a   Ando, Yumi ^a   Nakamura, Yuki ^a   Murata, Moe ^a   Takagi, Akira ^a   Murate, Takashi ^a   Matsushita, Tadashi ^b   Nakashima, Tadaaki ^c   Kojima, Tetsuhito ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY HOSPITAL   (Japan)

^c Tokuyama Central Hospital   (Japan)

Author keywords

Antithrombin deficiency; Genome rearrangement; RC3H1; SEPINC1

Indexed keywords

ANTITHROMBIN III; RNA BINDING PROTEIN; ROQUIN PROTEIN, HUMAN; SERPINC1 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADULT; ANTITHROMBIN III DEFICIENCY; AUTOIMMUNE DISEASE; CASE REPORT; COMPLICATION; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENETICS; HEMIZYGOTE; HUMAN; INTRON; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; ANTITHROMBIN III; ANTITHROMBIN III DEFICIENCY; AUTOIMMUNE DISEASES; BASE SEQUENCE; EXONS; FEMALE; GENE DOSAGE; HEMIZYGOTE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; RNA-BINDING PROTEINS; SEQUENCE DELETION; UBIQUITIN-PROTEIN LIGASES;

EID: 84905917605     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-014-1596-9     Document Type: Article

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