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Human Mutation|January 1, 1994
Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosisJ Zschocke, C A Graham, F J Stewart, et al.Human Mutation|January 1, 1994
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)W Schröder, K Wulff, M Wehnert, et al.Human Mutation|January 1, 1994
Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 geneM Upadhyaya, D J Shaw, P S HarperHuman Mutation|April 5, 2002
Determining sequence length or content in zero, one, and two dimensionsMark W Perlin, Beata SzabadyHuman Mutation|April 5, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 geneGábor Mátyás, Anne De Paepe, Dorothy Halliday, et al.Human Mutation|April 5, 2002
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher diseaseE Orvisky, J K Park, A Parker, et al.Human Mutation|April 5, 2002
A BRCA1 mutation in Native North American familiesAlexander Liede, Elaine Jack, Robert A Hegele, et al.Human Mutation|April 23, 2002
Mutations of RPGR in X-linked retinitis pigmentosa (RP3)Raf Vervoort, Alan F WrightHuman Mutation|April 23, 2002
GeneTests-GeneClinics: genetic testing information for a growing audienceRoberta A Pagon, Peter Tarczy-Hornoch, Patricia K Baskin, et al.Human Mutation|April 23, 2002
Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetesHarvest F GuPageof 583