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Human Mutation|August 14, 1999
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. OnlineA J Sarria, P Giraldo, J I Perez-Calvo, et al.
Human Mutation|February 5, 2000
Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. OnlineA Astrinidis, A Kouvatsi, J Nahmias, et al.
Human Mutation|January 29, 2000
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosisS Waliany, A K Das, A Gaben, et al.
Human Mutation|January 29, 2000
Five novel mutations in fourteen patients with Fabry DiseaseK M Rosenberg, R Schiffmann, C Kaneski, et al.
Human Mutation|June 30, 2000
Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafnessT Antoniadi, K Grønskov, A Sand, et al.
Human Mutation|June 30, 2000
Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancerR Otway, N Tetlow, J Hornby, et al.
Human Mutation|June 30, 2000
Distribution of Q188R and N314D mutations in the Hungarian galactosemic populationA Horváth, P Gyurus, A Kis, et al.
Human Mutation|April 17, 1999
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. OnlineG R Villani, N Balzano, P Di Natale
Human Mutation|April 17, 1999
Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. OnlineP M Frossard, E Girodon, K P Dawson, et al.
Human Mutation|April 17, 1999
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. OnlineA Cenarro, H K Jensen, E Casao, et al.
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