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Journal of Human Genetics|March 18, 2000
A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patientK C Park, H O Choi, K H Park, et al.
Journal of Human Genetics|September 25, 1999
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndromeN Okamoto, M Yagi, K Imura, et al.
Journal of Human Genetics|September 25, 1999
Novel polymorphism in the 5'-untranslated region of the interleukin-4 geneA Takabayashi, K Ihara, Y Sasaki, et al.
Journal of Human Genetics|April 6, 2001
Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese populationA Hirano, H Nagai, H Harada, et al.
Journal of Human Genetics|April 27, 2001
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in JapanM Takashima, K Ishikawa, U Nagaoka, et al.
Journal of Human Genetics|April 27, 2001
Loci on murine chromosomes 7 and 13 that modify the phenotype of the NOA mouse, an animal model of atopic dermatitisO Watanabe, M Tamari, K Natori, et al.
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