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Journal of Human Genetics|February 24, 2001
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyriaS Yu, V Poulos, P StewartJournal of Human Genetics|February 24, 2001
Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein familyY Ichigotani, S Matsuda, K Machida, et al.Journal of Human Genetics|March 4, 2000
cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 regionN Seki, N Ueki, K Yano, et al.Journal of Human Genetics|March 4, 2000
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL geneK Fukino, A Teramoto, K Adachi, et al.Journal of Human Genetics|March 4, 2000
Identification of a novel Tru9 I polymorphism in the human vitamin D receptor geneW Z Ye, A F Reis, G VelhoJournal of Human Genetics|March 18, 2000
Human cathepsin S gene (CTSS) promoter -25G/A polymorphismH Cao, R A HegeleJournal of Human Genetics|March 18, 2000
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndromeH Chikumi, T Yamamoto, Y Ohta, et al.Journal of Human Genetics|October 24, 2000
The human ribosomal protein L6 gene in a critical region for Noonan syndromeN Kenmochi, M Yoshihama, S Higa, et al.Journal of Human Genetics|October 24, 2000
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese populationA Ogawa, S Yamamoto, M Kanazawa, et al.Journal of Human Genetics|October 24, 2000
cDNA cloning of a new member of the Ras superfamily, RAB9-like, on the human chromosome Xq22.1-q22.3 regionN Seki, T Azuma, T Yoshikawa, et al.Pageof 353