Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: Novel truncating mutations in the FGA and FGG genes

Human Genetics

Volumn 108, Issue 3, 2001, Pages 237-240

  Neerman Arbez, M ^a   De Moerloose, P ^a   Honsberger, A ^a   Parlier, G ^a   Arnuti, B ^a   Biron, C ^a   Borg, J Y ^a   Eber, S ^a   Meili, E ^a   Peter Salonen, K ^a   Ripoll, L ^a   Vervel, C ^a   D'Oiron, R ^a   Staeger, P ^a   Antonarakis, S E ^a   Morris, M A ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; MESSENGER RNA;

AFIBRINOGENEMIA; ALPHA CHAIN; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RNA SPLICING; SEQUENTIAL ANALYSIS; SOUTHERN BLOTTING;

AFIBRINOGENEMIA; BLOTTING, SOUTHERN; DNA; DNA MUTATIONAL ANALYSIS; FIBRINOGEN; HUMANS; INFANT; INFANT, NEWBORN; MULTIGENE FAMILY; MUTATION;

EID: 17744397106     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100469     Document Type: Article

References (13)

1. Afibrinogenemia: First identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation
2. Von Willebrand factor interaction with the glycoprotein IIb/IIa complex. Its role in platelet aggregation as demonstrated in patients with congenital afibrinogenemia
3. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
4. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
5. Homozygous truncation of the fibrinogen Aalpha chain within the coiled coil causes congenital afibrinogenemia
6. A case of congenital afibrinogenemia: Fibrinogen Hakata, a novel nonsense mutation of the fibrinogen γ-chain gene
7. Evolution and organization of the fibrinogen locus on chromosome 4: Gene duplication accompanied by transposition and inversion
8. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing
9. Congenital dysfibrinogenemia
10. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia
11. Mutations in the fibrinogen Aalpha gene account for the majority of cases of congenital afibrinogenemia
12. Rare coagulation disorders
13. Über-faserstoffmangel im Blute bei einem Falle von Hämophilie