LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndromeK Fukuchi, T Katsuya, K Sugimoto, M Kuremura, H D Kim, L Li, T Ogihara
30 April 2004
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndromeA Sarkozy, E Conti, M Cristina Digilio, B Marino, E Morini, G Pacileo, M Wilson, R Calabrò, A Pizzuti, B Dallapiccola
30 April 2004
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosisP S Roberts, S Dabora, E A Thiele, D N Franz, S Jozwiak, D J Kwiatkowski
30 April 2004
Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, V M Hayes
1 April 2004
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patientsM C Walter, J A Petersen, R Stucka, D Fischer, R Schröder, M Vorgerd, A Schroers, H Schreiber, C O Hanemann, U Knirsch, A Rosenbohm, A Huebner, N Barisic, R Horvath, S Komoly
See the full list of authors1 April 2004
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathyH Ohmori, Y Ando, Y Makita, Y Onouchi, T Nakajima, M J M Saraiva, H Terazaki, O Suhr, G Sobue, M Nakamura, M Yamaizumi, M Munar-Ques, I Inoue, M Uchino, A Hata
1 April 2004
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis IIIA Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, M Zeigler
1 April 2004
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domainC Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, J Whittaker
1 April 2004
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)A Villablanca, A Calender, L Forsberg, A Höög, J-D Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A-L Richardson, L Delbridge, A Meyrier, C Proye, J D Carpten
See the full list of authors1 March 2004
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 geneS Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson
1 March 2004