Major Disorganization of Factor VIII Gene as a Cause of Severe Hemophilia A in Indian Patients [3]

American Journal of Hematology

Volumn 76, Issue 1, 2004, Pages 96-

  Shetty, Shrimati ^a   Ghosh, Kanjaksha ^a   Mohanty, Dipika ^a  

^a KEM HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

CHROMOSOME INVERSION; COST EFFECTIVENESS ANALYSIS; DISEASE SEVERITY; FAMILY HISTORY; GENE DISRUPTION; GENE FREQUENCY; GENE LOCATION; GENETIC RECOMBINATION; GENETIC SCREENING; HEMOPHILIA A; HETEROZYGOTE; HUMAN; INDIAN; INTRON; LETTER; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MORTALITY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 2342633281     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20031     Document Type: Letter

References (5)

1. Antonarakis SE, Rossiter JP, Young M, et al. Factor VIII gene inversion in severe hemophilia A: results of an international consortium study. Blood 1995;86: 2206-2212.
2. Bagnall RD, Waseem N, Green PM, Gianelli F. Recurrent inversions breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002;99:168-174.
3. Liu Q, Nozari GG, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92:1458-1459.
4. Riccardi F, Tagliaferri A, Manotti C, Pattacini C, Maria Neri T. Intron 1 factor VIII gene inversion in a population of Italian hemophilia A patients. Blood 2002; 100:3432.
5. Shetty S, Pathare A, Ghosh K, Jijina F, Mohanty D. Intron 22 inversions in factor VIII gene in Indian hemophiliacs. Thromb Haemost 1998;79:881.