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Human Mutation|July 12, 2002
Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometryMonika Werner, Michael Sych, Nicole Herbon, et al.Human Mutation|July 12, 2002
Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutationsIrene L Andrulis, Hoda Anton-Culver, Jeanne Beck, et al.Human Mutation|July 12, 2002
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patientsJean L Johnson, Katharine E Coyne, Robert M Garrett, et al.Human Mutation|July 12, 2002
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectivelyCarmen Nájera, Magdalena Beneyto, José Blanca, et al.Human Mutation|July 12, 2002
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndromeMarie-Louise Syrén, Silvana Tedeschi, Laila Cesareo, et al.Human Mutation|July 12, 2002
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patientsN Resta, A Stella, F C Susca, et al.Human Mutation|May 15, 2002
The IARC TP53 database: new online mutation analysis and recommendations to usersMagali Olivier, Ros Eeles, Monica Hollstein, et al.Human Mutation|May 15, 2002
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patientsSumiko Inoue, Kayoko Inoue, Maki Utsunomiya, et al.Human Mutation|May 15, 2002
Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohortJosef S Herzog, Erik M Jancis, Shidong Liao, et al.Human Mutation|May 20, 2003
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphismsPaula J Bray, Richard G H CottonPageof 583