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Human Mutation|April 3, 1999
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. OnlineD A Bessant, S Khaliq, A Hameed, et al.Human Mutation|April 3, 1999
Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-HinfI-I background in a myotonic dystrophy patient from India. Mutations in brief no. 210. OnlineP Basu, P K Gangopadhaya, S C Murkherjee, et al.Human Mutation|May 2, 2000
MTM1 mutations in X-linked myotubular myopathyJ Laporte, V Biancalana, S M Tanner, et al.Human Mutation|May 2, 2000
Novel mutations in 13 probands with galactokinase deficiencyV Kolosha, E Anoia, C de Cespedes, et al.Human Mutation|May 2, 2000
Detection of novel NF2 mutations by an RNA mismatch cleavage methodR Faudoa, Z Xue, F Lee, et al.Human Mutation|May 2, 2000
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotypeK Peoc'h, P Manivet, P Beaudry, et al.Human Mutation|October 1, 2003
Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancyAnna L GloynHuman Mutation|October 1, 2003
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio Pizzuti, Anna Sarkozy, Anthea L Newton, et al.Human Mutation|October 1, 2003
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionNaohiro Kurotaki, Naoki Harada, Osamu Shimokawa, et al.Human Mutation|October 1, 2003
Genotyping microarray (gene chip) for the ABCR (ABCA4) geneK Jaakson, J Zernant, M Külm, et al.Pageof 583