Molecular analyses in hemophilia B families: Identification of six new mutations in factor IX gene

Haematologica

Volumn 88, Issue 2, 2003, Pages 235-236

  Espinós, Carmen ^a   Casaña, Pilar ^a   Haya, Saturnino ^a   Cid, Ana R ^a   Aznar, José A ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Factor IX gene; Hemophilia B; Mutations

Indexed keywords

BLOOD CLOTTING FACTOR 9; GENE PRODUCT; PRIMER DNA;

ACCURACY; ARTICLE; CLINICAL ARTICLE; EXON; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HEMOPHILIA B; HUMAN; PATHOGENESIS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; FAMILY HEALTH; FEMALE; GENETICS; LETTER; MALE; MUTATION; NUCLEOTIDE SEQUENCE; SPAIN;

DNA MUTATIONAL ANALYSIS; FACTOR IX; FAMILY HEALTH; FEMALE; HEMOPHILIA B; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; SPAIN;

EID: 0037608693     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Yoshitake S, Shach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophiliac factor B). Biochemistry 1985;24:3736-50.
2. Giannelli F, Green PM, Sommer SS, Poon MC, Ludwing M, Schwaab R, et al. Haemophilia B: database of point mutations and short additions and deletions - eighth edition. Nucleic Acids Res 1998;26:265-8.
3. Lorenzo JI, Casaña P, Espinós C, Ferrer R, Aznar JA. Diagnosis of two related carriers of severe haemophilia B with no history. Haemophilia 2000;6:195-7.
4. Espinós C, Lorenzo JI, Casaña P, Martinez F, Aznar JA. Hemophilia B in a female caused by skewed inactivation of the normal X-chromosome. Haematologica 2000;85:1092-5.
5. Costa JM, Vidaud D, Laurendeau I, Vidaud M, Fressinaud E, Moisan JP, et al. Somatic mosaicism and compound heterozygosity in female hemophilia B. Blood 2000;96:1585-6.
6. Sommer SS, Scaringe WA, Hill KA. Human germline mutation in the factor IX gene. Mut Res 2001;487:1-17.