P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndromeN A Garrison, Z Yi, O Cohen-Barak, M Huizing, L M Hartnell, W A Gahl, M H Brilliant
1 June 2004
Broader geographical spectrum of Cohen syndrome due to COH1 mutationsG H Mochida, A Rajab, W Eyaid, A Lu, D Al-Nouri, K Kosaki, M Noruzinia, P Sarda, J Ishihara, A Bodell, K Apse, C A Walsh
1 June 2004
A germline mutation in KIT in familial diffuse cutaneous mastocytosisX Tang, M Boxer, A Drummond, P Ogston, M Hodgins, A D Burden
1 June 2004
Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patientsG Keller, H Vogelsang, I Becker, S Plaschke, K Ott, G Suriano, A R Mateus, R Seruca, K Biedermann, D Huntsman, C Döring, E Holinski-Feder, A Neutzling, J R Siewert, H Höfler
1 June 2004
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptomsL Cremonesi, A Cozzi, D Girelli, F Ferrari, I Fermo, B Foglieni, S Levi, C Bozzini, M Camparini, M Ferrari, P Arosio
1 June 2004
Clusters of non-truncating mutations of P/Q type Ca channel subunit Ca2.1 causing episodic ataxia 2E Mantuano, L Veneziano, M Spadaro, P Giunti, S Guida, M G Leggio, L Verriello, N Wood, C Jodice, M Frontali
1 June 2004
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasiaN Sabherwal, R J Blaschke, A Marchini, D Heine-Suner, J Rosell, J Ferragut, W F Blum, G Rappold
1 June 2004
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosisK Mayer, M Goedbloed, K van Zijl, M Nellist, H-D Rott
30 April 2004
Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: is there a correlation with clinicopathological profile?L-J C Wong, D-J Tan, R-K Bai, K-T Yeh, J Chang
30 April 2004
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channelQ Wang, S Chen, Q Chen, X Wan, J Shen, G A Hoeltge, A A Timur, M T Keating, G E Kirsch
30 April 2004