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Volumn 2, Issue 3, 2004, Pages 437-440

Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene

Author keywords

Chromosomal translocation; Coagulation factor IX; Female with hemophilia

Indexed keywords

BLOOD CLOTTING FACTOR 9; BROXURIDINE; GENOMIC DNA; RECOMBINANT BLOOD CLOTTING FACTOR 9;

EID: 6944225415     PISSN: 15387933     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1538-7933.2004.00626.x     Document Type: Article
Times cited : (7)

References (15)
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  • 4
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    • Neuschatz, J.1    Necheles, T.F.2
  • 11
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    • Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes
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    • Phenotypic effects of balanced X-autosome translocations in females: A retrospective survey of 104 cases reported from UK laboratories
    • Waters JJ, Campbell PL, Crocker AJ, Campbell CM. Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet 2001; 108: 318-27.
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    • Waters, J.J.1    Campbell, P.L.2    Crocker, A.J.3    Campbell, C.M.4
  • 14
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    • Gamma delta beta-thalassemia due to a de novo mutation deleting the 5′ beta-globin gene activation-region hypersensitive sites
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  • 15
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    • Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro
    • Miao CH, Ohashi K, Patijn GA, Meuse L, Ye X, Thompson AR, Kay MA. Inclusion of the hepatic locus control region, an intron, and untranslated region increases and stabilizes hepatic factor IX gene expression in vivo but not in vitro. Mol Ther 2000; 1: 522-32.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.