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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.
Human Mutation|April 27, 2004
Approaches for analyzing human mutations and nucleotide sequence variation: a report from the Seventh International Mutation Detection meeting, 2003Ann-Christine Syvänen, Graham R Taylor
Human Mutation|April 27, 2004
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)Jonas Denecke, Christian Kranz, Dirk Kemming, et al.
Human Mutation|April 27, 2004
Genetic characterization of myeloperoxidase deficiency in ItalyCaterina Marchetti, Pierluigi Patriarca, G Pietro Solero, et al.
Human Mutation|April 27, 2004
A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotypeSamantha L Ginn, Christine Smyth, Melanie Wong, et al.
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