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Human Mutation|April 5, 2002
Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombinationMelissa A Brown, Li-Jan Lo, Aurélie Catteau, et al.Human Mutation|April 5, 2002
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment familiesNúria López-Bigas, Salvatore Melchionda, Paolo Gasparini, et al.Human Mutation|April 5, 2002
An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosusA C Forton, M A Petri, D Goldman, et al.Human Mutation|April 5, 2002
Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroinJinxiu Shi, Lijian Hui, Yonghai Xu, et al.Human Mutation|April 5, 2002
A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362XRosemary W Heathcott, Ian M Morison, Marie Claire Gubler, et al.Human Mutation|April 5, 2002
Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutationsLuis A Salazar, Mario H Hirata, Selma A Cavalli, et al.Human Mutation|April 23, 2002
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindredCarla Oliveira, Maria Cristina Bordin, Nicola Grehan, et al.Human Mutation|April 23, 2002
Novel germline CDH1 mutations in hereditary diffuse gastric cancer familiesBostjan Humar, Tumi Toro, Francesco Graziano, et al.Human Mutation|January 1, 1995
PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiencyM S HershfieldHuman Mutation|January 1, 1995
Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in RussiaO V Evgrafov, A V Polyakov, I G Dzenis, et al.Pageof 583