Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis
Contributeurs/tricesRubbia-Brandt, Laura; Neerman Arbez, Marguerite ; Rougemont, A. L.; Male, P. J.; Spahr, Laurent
Publié dansThe American journal of surgical pathology, vol. 30, no. 7, p. 906-911
Date de publication2006
Résumé
Mots-clés
- Adult
- Afibrinogenemia/ genetics/metabolism/pathology
- Amino Acid Sequence
- Amino Acid Substitution
- Arginine/genetics/metabolism
- Endoplasmic Reticulum/ metabolism
- Family Health
- Fibrinogen/ genetics/metabolism
- Hepatocytes/metabolism/pathology
- Humans
- Inclusion Bodies/metabolism/pathology
- Liver/metabolism/pathology
- Liver Cirrhosis/ genetics/metabolism/pathology
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation, Missense
- Point Mutation
- Tryptophan/genetics/metabolism
Structure d'affiliation
Citation (format ISO)
RUBBIA-BRANDT, Laura et al. Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis. In: The American journal of surgical pathology, 2006, vol. 30, n° 7, p. 906–911. doi: 10.1097/01.pas.0000209848.59670.2c
Fichiers principaux (1)
Article
Identifiants
- PID : unige:9006
- DOI : 10.1097/01.pas.0000209848.59670.2c
- PMID : 16819336
ISSN du journal0147-5185