Table of contents

Original articles

• A PCSK9 variant and familial combined hyperlipidaemia

  (15 August, 2008)

  M Abifadel, L Bernier, G Dubuc, G Nuel, J-P Rabès, J Bonneau, A Marques, M Marduel, M Devillers, A Munnich, D Erlich, M Varret, M Roy, J Davignon, C Boileau
• Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

  (12 August, 2008)

  F E Abidi, L Holloway, C A Moore, D D Weaver, R J Simensen, R E Stevenson, R C Rogers, C E Schwartz
• Reversible phenotype in a mouse model of Hutchinson–Gilford progeria syndrome (15 August, 2008)

  H Sagelius, Y Rosengardten, E Schmidt, C Sonnabend, B Rozell, M Eriksson
• Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene

  (8 July, 2008)

  N Ishikawa, S Okada, M Miki, K Shirao, H Kihara, M Tsumura, K Nakamura, H Kawaguchi, M Ohtsubo, S Yasunaga, K Matsubara, M Sako, J Hara, M Shiohara, S Kojima, T Sato, Y Takihara, M Kobayashi
• DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients (12 August, 2008)

  I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti, S Cocozza
• Association of a null allele of SPRN with variant Creutzfeldt–Jakob disease

  (19 September, 2008)

  J A Beck, T A Campbell, G Adamson, M Poulter, J B Uphill, E Molou, J Collinge, S Mead