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Human Mutation|September 15, 2004
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidaseJani Saarela, Carina von Schantz, Leena Peltonen, et al.Human Mutation|September 15, 2004
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancerJae Hong Seo, Dae-Yeon Cho, Se-Hyun Ahn, et al.Human Mutation|September 15, 2004
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patientsOzgül M Alper, Lee-Jun C Wong, Suzanne Young, et al.Human Mutation|August 10, 2004
Infevers: an evolving mutation database for auto-inflammatory syndromesIsabelle Touitou, Suzanne Lesage, Michael McDermott, et al.Human Mutation|August 10, 2004
Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbersCharlotte Brasch-Andersen, Lene Christiansen, Qihua Tan, et al.Human Mutation|August 10, 2004
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNALucia Susani, Alessandra Pangrazio, Cristina Sobacchi, et al.Human Mutation|August 10, 2004
Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridizationShannon Cowie, Snezana Drmanac, Donald Swanson, et al.Human Mutation|June 29, 2004
Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinomaYun Wang, Pedro Kringen, Gunnar B Kristensen, et al.Human Mutation|June 29, 2004
Novel MC1R variants in Ligurian melanoma patients and controlsLorenza Pastorino, Roberto Cusano, William Bruno, et al.Human Mutation|June 29, 2004
Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palateF Pezzetti, M Martinelli, L Scapoli, et al.Pageof 577