An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study

Abstract Background Cystic fibrosis is the most common lethal recessive disorder among Caucasians. Over 1500 mutations have been identified in cystic fibrosis transmembrane conductance regulator disease-gene so far. A large variability of the clinical phenotype has been observed both in cystic fibro...

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Veröffentlicht in:	Digestive and liver disease 2009-11, Vol.41 (11), p.817-822
Hauptverfasser:	Tomaiuolo, R, Degiorgio, D, Coviello, D.A, Baccarelli, A, Elce, A, Raia, V, Motta, V, Seia, M, Castaldo, G, Colombo, C
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCB4 gene Adolescent Adult ATP Binding Cassette Transporter, Sub-Family B - genetics Cystic fibrosis Cystic Fibrosis - complications Cystic Fibrosis - genetics Female Gastroenterology and Hepatology Genotype–phenotype correlation Haplotypes Hemochromatosis (HFE) gene Humans Liver Diseases - complications Liver Diseases - genetics Male Mannose-Binding Lectin - genetics MBL2 gene Modifier genes Phenotype Polymorphism, Single Nucleotide Serpin-1 gene Young Adult
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