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See Latest ArticlesLamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene
International Journal of Dermatology, 10/28/09
Rodriguez–Pazos L et al. – The finding indicates that the integrity of beta–barrel domains is important for the correct function of the enzyme and that the authors are still far away from a consistent genotype–phenotype correlation.
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