Liver disease

A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders
M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, T M Magin

Journal of Medical Genetics Apr 2004, 41 (4) e42; DOI: 10.1136/jmg.2003.012393
A combination of genetic polymorphisms increases the risk of progressive disease in chronic hepatitis C
M M Richardson, E E Powell, H D Barrie, A D Clouston, D M Purdie, J R Jonsson

Journal of Medical Genetics Jul 2005, 42 (7) e45; DOI: 10.1136/jmg.2005.032557
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
J C Sánchez-Gutiérrez, T Benlloch, M A Leal, B Samper, I García-Ripoll, J E Felíu

Journal of Medical Genetics Sep 2002, 39 (9) e56; DOI: 10.1136/jmg.39.9.e56
Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography
R Surber, H H Sigusch, H Kuehnert, H R Figulla

Journal of Medical Genetics May 2003, 40 (5) e58; DOI: 10.1136/jmg.40.5.e58
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
C Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, K Zerres

Journal of Medical Genetics Oct 2005, 42 (10) e63; DOI: 10.1136/jmg.2005.032318
Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?
L-J C Wong, D-J Tan, R-K Bai, K-T Yeh, J Chang

Journal of Medical Genetics May 2004, 41 (5) e65; DOI: 10.1136/jmg.2003.013532
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
R Müllenbach, K J Linton, S Wiltshire, N Weerasekera, J Chambers, E Elias, C F Higgins, D G Johnston, M I McCarthy, C Williamson

Journal of Medical Genetics May 2003, 40 (5) e70; DOI: 10.1136/jmg.40.5.e70
The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti-Furga, Shiro Ikegawa

Journal of Medical Genetics Apr 2007, 44 (4) e73; DOI: 10.1136/jmg.2006.043869
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders
M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini

Journal of Medical Genetics Feb 2005, 42 (2) e9; DOI: 10.1136/jmg.2004.027375
Keratin 8 Y54H and G62C mutations are not associated with liver disease
J Halangk, T Berg, G Puhl, T Mueller, R Nickel, A Kage, O Landt, W Luck, B Wiedenmann, P Neuhaus, H Witt

Journal of Medical Genetics Jul 2004, 41 (7) e92; DOI: 10.1136/jmg.2003.011650

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