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Human Mutation|July 23, 2003
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individualsJoni L Rutter, Amelia M Smith, Michael R Dávila, et al.Human Mutation|November 21, 2002
Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophiesEva Paloma, Rosa Coco, Amalia Martínez-Mir, et al.Human Mutation|November 21, 2002
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)Henian Cao, Sanam Shorey, John Robinson, et al.Human Mutation|November 21, 2002
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGLS Lucchiari, M A Donati, R Parini, et al.Human Mutation|October 29, 2002
The human SHOX mutation databaseBeate Niesler, Christine Fischer, Gudrun A RappoldHuman Mutation|October 29, 2002
Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosaCarsten M Pusch, Martina Broghammer, Bernhard Jurklies, et al.Human Mutation|October 29, 2002
Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutationsAlvaro Blanch, Olga Roche, Eduardo López-Granados, et al.Human Mutation|December 24, 2002
The mutational spectrum of human autosomal tetranucleotide microsatellitesAndréia M Leopoldino, Sérgio D J PenaHuman Mutation|December 24, 2002
Mutation scanning by ion-pair reversed-phase high-performance liquid chromatography-electrospray ionization mass spectrometry (ICEMS)Herbert Oberacher, Christian G Huber, Peter J OefnerHuman Mutation|December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadricepsIris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.Pageof 583