CFC1 gene involvement in biliary atresia with polysplenia syndrome

Anne Davit-Spraul; Christiane Baussan; Bogdan Hermeziu; Olivier Bernard; Emmanuel Jacquemin

doi:10.1097/01.mpg.0000304465.60788.f4

CFC1 gene involvement in biliary atresia with polysplenia syndrome

Anne Davit-Spraul, Christiane Baussan, Bogdan Hermeziu, Olivier Bernard, Emmanuel Jacquemin

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

80 Citations (Scopus)

Résumé

The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.

langue originale	Anglais
Pages (de - à)	111-112
Nombre de pages	2
journal	Journal of Pediatric Gastroenterology and Nutrition
Volume	46
Numéro de publication	1
Les DOIs	https://doi.org/10.1097/01.mpg.0000304465.60788.f4
état	Publié - 1 janv. 2008
Modification externe	Oui

Accès au document

10.1097/01.mpg.0000304465.60788.f4

Autres fichiers et liens

Lien vers la publication dans Scopus

Contient cette citation

@article{d9e4dc73deac45bb82642523093bbc42,

title = "CFC1 gene involvement in biliary atresia with polysplenia syndrome",

abstract = "The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.",

keywords = "Biliary atresia, CFC1 gene, Polysplenia syndrome",

author = "Anne Davit-Spraul and Christiane Baussan and Bogdan Hermeziu and Olivier Bernard and Emmanuel Jacquemin",

year = "2008",

month = jan,

day = "1",

doi = "10.1097/01.mpg.0000304465.60788.f4",

language = "English",

volume = "46",

pages = "111--112",

journal = "Journal of Pediatric Gastroenterology and Nutrition",

issn = "0277-2116",

number = "1",

}

TY - JOUR

T1 - CFC1 gene involvement in biliary atresia with polysplenia syndrome

AU - Davit-Spraul, Anne

AU - Baussan, Christiane

AU - Hermeziu, Bogdan

AU - Bernard, Olivier

AU - Jacquemin, Emmanuel

PY - 2008/1/1

Y1 - 2008/1/1

N2 - The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.

AB - The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.

KW - Biliary atresia

KW - CFC1 gene

KW - Polysplenia syndrome

UR - http://www.scopus.com/inward/record.url?scp=37549045669&partnerID=8YFLogxK

U2 - 10.1097/01.mpg.0000304465.60788.f4

DO - 10.1097/01.mpg.0000304465.60788.f4

M3 - Article

C2 - 18162845

AN - SCOPUS:37549045669

SN - 0277-2116

VL - 46

SP - 111

EP - 112

JO - Journal of Pediatric Gastroenterology and Nutrition

JF - Journal of Pediatric Gastroenterology and Nutrition

IS - 1

ER -