A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage
Pathology
.
2017 Aug;49(5):534-537.
doi: 10.1016/j.pathol.2017.03.007.
Epub 2017 Jun 30.
Authors
Francesco Callea
1
,
Isabella Giovannoni
2
,
Sinan Sari
3
,
Aysel Unlusoy Aksu
3
,
Guldal Esendagly
4
,
Buket Dalgic
3
,
Renata Boldrini
2
,
Gulen Akyol
4
,
Paola Francalanci
2
,
Emanuele Bellacchio
5
Affiliations
1
Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: francesco.callea@opbg.net.
2
Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
3
Department of Pediatric Gastroenterology, Turkey.
4
Department of Pathology, Gazi University Faculty of Medicine in Ankara, Turkey.
5
Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
PMID:
28673429
DOI:
10.1016/j.pathol.2017.03.007
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adult
Afibrinogenemia / genetics*
Child
Female
Fibrinogen / genetics*
Humans
Infant
Liver / pathology*
Male
Mutation / genetics*
Substances
fibrinopeptides gamma
Fibrinogen