Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B

Haemophilia

Volumn 14, Issue 5, 2008, Pages 1088-1093

  Okumura, K ^a   Fujimori, Y ^a   Takagi, A ^a,b   Murate, T ^a,b   Ozeki, M ^c   Yamamoto, K ^d   Katsumi, A ^a   Matsushita, T ^a   Naoe, T ^a   Kojima, Tetsuhito ^a,b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d NAGOYA UNIVERSITY HOSPITAL   (Japan)

Author keywords

Crossing over; Female; Haemophilia B; Skewed inactivation; Twin; X chromosome

Indexed keywords

AMPA RECEPTOR; ARGININE; BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR 9 CONCENTRATE; PHOSPHOGLYCERATE KINASE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME XQ; CORRELATION FUNCTION; CROSSING OVER; DISEASE SEVERITY; DIZYGOTIC TWINS; FEMALE; GENE SEQUENCE; GENETIC POLYMORPHISM; HEMOPHILIA B; HETEROZYGOTE; HUMAN; HUMAN CELL; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

BLOTTING, SOUTHERN; DISEASES IN TWINS; FACTOR IX; FEMALE; HAPLOTYPES; HEMOPHILIA B; HUMANS; INFANT; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; TWINS, DIZYGOTIC; X CHROMOSOME INACTIVATION;

EID: 51249119172     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01786.x     Document Type: Article

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