Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage

Journal of Pediatrics

Volumn 146, Issue 1, 2005, Pages 128-130

  Herrmann, Falko H ^a   Navarette, Marta ^a   Salazar Sanchez, Lizbeth ^a   Carillo, Juan M ^a   Auerswald, Guenter ^a   Wulff, Karin ^a  

^a UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BRAIN HEMORRHAGE; CENTRAL NERVOUS SYSTEM; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; PERINATAL CARE; PRIORITY JOURNAL;

COSTA RICA; DNA MUTATIONAL ANALYSIS; FACTOR X; FACTOR X DEFICIENCY; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTRACRANIAL HEMORRHAGES; MALE; MUTATION, MISSENSE;

EID: 11844272623     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.08.049     Document Type: Article

References (11)

1. J. Uprichard, and D.J. Perry Factor X deficiency Blood Rev 16 2002 97 110
2. F. Peyvandi, P.M. Mannucci, M. Lak, M. Abdoullahi, S. Zeinali, and R. Sharifian Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients Br J Hematol 102 1998 626 628
3. K. Wulff, and F.H. Herrmann Twenty-two novel mutations of the factor VII gene in factor VII deficiency Hum Mutat 15 2000 489 496
4. F.H. Herrmann, K. Wulff, S. Lopaciuk, and H. Pollmann Two novel factor X mutations in severe factor X deficiency Throm Haemost suppl 2001 P1126
5. D.S. Millar, L. Elliston, P. Deex, M. Krawczak, A.I. Wacey, and J. Reynaud Molecular analysis of the genotype-phenotype relationship in factor X deficiency Hum Genet 106 2000 249 257
6. K. Wulff, U. Ebener, Ch.-S. Wehnert, P.A. Ward, U. Reuner, and W. Hiebsch Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis Dis Markers 13 1997 77 86
7. F. Vianello, A.M. Lombardi, C. Boldrin, S. Luni, and A. Girolami A new factor X defect (factor X Padua 3): a compound heterozygous between true deficiency (Gly(380)-Arg) and a abnormality (Ser(334)-Pro) Thromb Res 104 2001 257 264
8. F. Peyvandi, M. Menegatti, E. Santagostino, S. Akhavan, J. Upichard, and D.J. Perry Gene mutations and three-dimensional structural analysis in families with severe factor X deficiency Br J Haematol 117 2002 685 692
9. A. Citak, R. Ucsel, M. Karabocuoglu, A. Unuvar, and N. Uzel A rare cause of intracranial hemorrhage:factor X deficiency Pediatr Emerg Care 17 2001 349 350
10. S. El Kalla, and N.S. Menon Neonatal congenital Factor X deficiency Pediatr Hematol Oncol 8 1991 347 354
11. T. Sumer, M. Ahmad, N.K. Sumer, and M.I. Al-Mouzan Severe congenital factor X deficiency with intracranial haemorrhage Eur J Pediatr 145 1986 119 120