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MISC (8件)
- Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. 2003
- EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.". 2002
- Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). 2002
- Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. 2002
- Lipoid proteinosis. 2002
- Common mutations in Arg 304 of the p63 gene in EEC syndrome: Lack of Genotype-ohenotype correlation and lmplications for Mutation detection strategies. 2002
- Bullous pemphigoid sera react specifically with various domains of BP230, most frequently with C-terminal domain, by immunoblot analusis using bacterial recombinant proteins covering the entire molecule.". 2001
- 肛囲に発生した基底細胞上皮腫の1例. 1999
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