Hypofibrinogenemia associated with a heterozygous C→T nucleotide substitution at position - 1138 bp of the 5′-flanking region of the fibrinogen Aα-chain gene

Annals of the New York Academy of Sciences

Volumn 936, Issue , 2001, Pages 526-530

  Okumura, Nobuo ^a   Terasawa, Fumiko ^a   Yonekawa, Osamu ^b   Hamada, Etsuko ^c   Kaneko, Hiroshi ^d  

^a SHINSHU UNIVERSITY   (Japan)

^b SEIREI HAMAMATSU GENERAL HOSPITAL   (Japan)

^c HAMAMATSU UNIVERSITY HOSPITAL   (Japan)

^d Matsuda Hospital   (Japan)

Author keywords

5 Flanking region; chain gene; Fibrinogen A ; Hypofibrinogenemia; Nucleotide substitution

Indexed keywords

DNA; FIBRINOGEN; LUCIFERASE;

CONFERENCE PAPER; DNA FLANKING REGION; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; HYPOFIBRINOGENEMIA; PATHOGENESIS;

EID: 0034972557     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2001.tb03539.x     Document Type: Conference Paper

References (6)

1. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia
2. Hypofibrinogenemia associated with a heterozygous missense mutation γ153Cys to Arg (Matsumoto IV): In vitro expression demonstrates defective secretion of the variant fibrinogen
3. Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
4. Hypofibrinogenemia in an individual with 2 coding (γ82A→G and Bβ235P→L) and 2 noncoding mutations
5. Mutations in the fibrinogen Aα gene account for the majority of cases of congenital afibrinogenemia
6. Characterization of the 5′-flanking region of the gene for the α chain of human fibrinogen