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Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
Human Mutation|September 23, 1998
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish populationM Horowitz, M Pasmanik-Chor, Z Borochowitz, et al.
Human Mutation|September 23, 1998
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiencyT Fukao, H Nakamura, X Q Song, et al.
Human Mutation|September 23, 1998
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlationsI Dianzani, L de Sanctis, P M Smooker, et al.
Human Mutation|July 22, 1998
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblingsX Q Song, T Fukao, H Watanabe, et al.
Human Mutation|July 22, 1998
Further delineation of the molecular pathology of Wilson disease in the Mediterranean populationG Loudianos, V Dessì, M Lovicu, et al.
Human Mutation|July 22, 1998
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition proteinJ C States, E R McDuffie, S P Myrand, et al.
Human Mutation|July 22, 1998
Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicityL J Otero, R M Brown, G K Brown
Human Mutation|July 22, 1998
A new set of primers for mutation analysis of the human PAX6 geneJ Love, R Axton, A Churchill, et al.
Human Mutation|August 26, 1998
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutationsS I Goodman, D E Stein, S Schlesinger, et al.
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