Transglutaminase 1 mutations in autosomal recessive congenital icthyosis: private and recurrent mutations in an isolated population
Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi K-M, Saarialho-Kere U, Kere J and Palotie A. Am J Hum Genet 1997;**61:529-538.
http://www.ncbi.nlm.nih.gov/pubmed/9326318
Molecular mechanisms of mutations in FXIII deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins
Mikkola H, Muszbek L, Hämäläinen E, Haramura G, Jalanko A and Palotie A. Thromb Haemost 1997;**78:1068-74.
http://www.ncbi.nlm.nih.gov/pubmed/9241733
Molecular mechanism of a mild phenotype in coagulation factor FXIII deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA
Mikkola H, Muszbek L, Laiho E, Syrjälä M, Hämäläinen E, Haramura G, Salmi T, Peltonen L and Palotie A. Blood 1997;**88:1279-87.
http://www.ncbi.nlm.nih.gov/pubmed/9028951