Female haemophilia A caused by skewed X inactivation

Haemophilia

Volumn 14, Issue 4, 2008, Pages 846-848

  Knobe, Karin E ^a   Sjorin E ^a   Soller, M J ^a   Liljebjorn H ^a   Ljung, R C R ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; CYSTEINE; DESMOPRESSIN; GUANINE; TRANEXAMIC ACID; TYROSINE;

ABDOMINAL BLEEDING; AMINO ACID SUBSTITUTION; ARTICLE; BLADDER PUNCTURE; BLINDNESS; CASE REPORT; DISEASE SEVERITY; FEMALE; GENE AMPLIFICATION; HEMOPHILIA A; HETEROZYGOTE; HUMAN; INCONTINENTIA PIGMENTI; INFANT; NEWBORN; PARTIAL THROMBOPLASTIN TIME; PATHOGENESIS; POINT MUTATION; POLYMERASE CHAIN REACTION; POSTOPERATIVE HEMORRHAGE; PRIORITY JOURNAL; SCHOOL CHILD; TOOTH MALFORMATION; URINARY TRACT INFECTION; X CHROMOSOME INACTIVATION;

CHILD; CHROMOSOMES, HUMAN, X; FEMALE; HEMOPHILIA A; HUMANS; INFANT; X CHROMOSOME INACTIVATION;

EID: 47649111369     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01754.x     Document Type: Article

References (4)

1. Knobe KE, Villoutreix BO, Tengborn LI, Petrini P, Ljung RC. Factor VIII inhibitors in two families with mild haemophilia A: Structural analysis of the mutations. Haemostasis 2000; 30: 268-79.
2. Dahlen A, Debiec-Rychter M, Pedeutour F et al. Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors. Int J Cancer 2003; 103: 616-23.
3. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-39.
4. Coleman R, Genet SA, Harper JI, Wilkie AO. Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. J Med Genet 1993; 30: 497-500.