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Human Mutation|October 29, 2002
The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequencesSusanne Schulz, Undraga Schagdarsurengin, Petra Greiser, et al.Human Mutation|November 21, 2002
SLC26A3 mutations in congenital chloride diarrheaSiru Mäkelä, Juha Kere, Christer Holmberg, et al.Human Mutation|November 21, 2002
Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypesDaniel W NebertHuman Mutation|November 21, 2002
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patientsKarin Michels-Rautenstrauss, Christian Mardin, Nina Wakili, et al.Human Mutation|November 21, 2002
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neuronsPiret Michelson, Christine Hartwig, Melitta Schachner, et al.Human Mutation|July 19, 2002
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypesRachel L Robinson, Collin Brooks, Sarah L Brown, et al.Human Mutation|July 19, 2002
Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndromeKoon-Wing Chan, Tsz-Leung Lee, Brian Hon-Yin Chung, et al.Human Mutation|July 19, 2002
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemiaSusanne Heimerl, Thomas Langmann, Christoph Moehle, et al.Human Mutation|July 12, 2002
BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial casesHulya Yazici, Gordon Glendon, Hilal Yazici, et al.Human Mutation|July 12, 2002
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 proteinVirginie Wautot, Cécile Vercherat, James Lespinasse, et al.Pageof 583