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Human Mutation|March 20, 2008
K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian populationRon Do, Guillaume Paré, Alexandre Montpetit, et al.
Human Mutation|March 25, 2008
MID1 mutations in patients with X-linked Opitz G/BBB syndromeBianca Fontanella, Giorgio Russolillo, Germana Meroni
Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.
Human Mutation|March 12, 2008
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BORAmit Kochhar, Dana J Orten, Jessica L Sorensen, et al.
Human Mutation|March 12, 2008
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrumRoberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, et al.
Human Mutation|April 5, 2008
Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell linesPedro P Medina, Octavio A Romero, Takashi Kohno, et al.
Human Mutation|November 26, 1998
Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria familyA V Corrigall, R J Hift, V Hancock, et al.
Human Mutation|November 26, 1998
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor geneC Stolle, G Glenn, B Zbar, et al.
Human Mutation|October 29, 1998
Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skippingK Tavassoli, A Eigel, K Wilke, et al.
Human Mutation|October 29, 1998
A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated regionF E Kleiman, A O Ramírez, R Dodelson de Kremer, et al.
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