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Correlation between genotype and phenotype has been examined in 14 families with autosomal recessive lamellar ichthyosis. The results show no consistent correlation between genetic and clinical classifications, suggesting that existing clinical criteria do not discriminate between the different molecular forms of the disease. Three loci have been associated with lamellar ichthyosis. In families with mutations on the TGM1 gene, seven different missense mutations and one splice mutation have been found.

Examines the clustering of COL7A1 mutations in exon 73 and its implications for mutation analysis in dystrophic epidermolysis bullosa. Correlations between the clinical phenotype, inheritance, and mutation; Identification of a missense mutation in exon 73 of COL7A1; Gene region with high mutational frequency.

Objective: The clinical practice concerning the use of coercive measures in psychiatry should be compared., Method: A common documentation of physical restraint, seclusion, and medication by coercion was introduced among 10 hospitals., Results: 8.4 % of cases treated within the first 6 months of 2004 were exposed to coercive measures with the highest percentage among patients with psychoorganic disorders (32.1 %). The incidence of coercive measures varied highly between different diagnostic groups and hospitals., Discussion: The processing of the large multi-site data sets yields considerable technical problems. Data interpretation should consider confounding factors such as case mix and hospital structure characteristics.