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Human Mutation|June 1, 2001
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosaM Martinez-Gimeno, M Maseras, M Baiget, et al.Human Mutation|June 1, 2001
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcriptA Vega, B Campos, B Bressac-De-Paillerets, et al.Human Mutation|July 5, 2001
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM geneS Weller, J GärtnerHuman Mutation|July 5, 2001
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasiaA Taillandier, A S Lia-Baldini, M Mouchard, et al.Human Mutation|July 5, 2001
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11I Meloni, P Rubegni, G De Aloe, et al.Human Mutation|April 4, 2003
Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screeningPaal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, et al.Human Mutation|April 4, 2003
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolutionJohn Christodoulou, Andrew Grimm, Tony Maher, et al.Human Mutation|April 4, 2003
Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasiaUrszula Cymerman, Sonia Vera, Amna Karabegovic, et al.Human Mutation|April 4, 2003
Detection of hotspot mutations and polymorphisms using an enhanced PCR-RFLP approachW H Liu, M Kaur, G M MakrigiorgosHuman Mutation|April 4, 2003
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern PolandMagdalena Perkowska, Izabela BroZek, Barbara Wysocka, et al.Pageof 583