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Human Mutation|September 30, 1999
Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colonJ C Kim, S A Roh, H C Kim, et al.Human Mutation|September 30, 1999
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemiaM L Cardoso, E Martins, R Vasconcelos, et al.Human Mutation|May 25, 1999
Guidelines and recommendations for content, structure, and deployment of mutation databasesC R Scriver, P M Nowacki, H LehväslaihoHuman Mutation|May 25, 1999
Molecular genetic study of Pompe disease in Chinese patients in TaiwanT M Ko, W L Hwu, Y W Lin, et al.Human Mutation|May 25, 1999
Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo. Mutation in brief no. 238. OnlineG Marino, S Travali, T Reyes, et al.Human Mutation|October 26, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patientS Marlin, S Blanchard, R Slim, et al.Human Mutation|October 26, 1999
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletionsC Lopez Correa, H Brems, C Lázaro, et al.Human Mutation|October 26, 1999
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defectsK Mayer, W Ballhausen, H D RottHuman Mutation|October 26, 1999
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence changeK T Hiriyanna, E L Bingham, B M Yashar, et al.Human Mutation|January 8, 2000
Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. OnlineC A Moskaluk, H Hruban, A Lietman, et al.Pageof 583