JMG Online mutation reports

Citations 161-165 of 165 total displayed.

Online mutation reports
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

C Cybulski, K Krzystolik, A Murgia, B Górski, T Debniak, A Jakubowska, M Martella, G Kurzawski, M Prost, I Kojder, J Limon, P Nowacki, L Sagan, B Bialas, J Kaluza, M Zdunek, A Omulecka, D Jaskólski, E Kostyk, B Koraszewska-Matuszewska, O Haus, H Janiszewska, K Pecold, M Starzycka, R Slomski, M Cwirko, A Sikorski, B Gliniewicz, L Cyrylowski, L Fiszer-Maliszewska, J Gronwald, A Toloczko-Grabarek, S Zajaczek, J Lubinski
J. Med. Genet. 2002; 39: e38. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

C Olivieri, E Mira, G Delù, F Pagella, A Zambelli, L Malvezzi, E Buscarini, C Danesino
J. Med. Genet. 2002; 39: e39. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene

E Goicoechea de Jorge, I Lorda, M E Gallardo, B Pérez, C Peréz de Ferrán, H Mendoza, S Rodríguez de Córdoba
J. Med. Genet. 2002; 39: e40. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Relationship between genotype and phenotype for the CFTR gene W846X mutation

I Duguépéroux, G Bellis, C Férec, D Gillet, V Scotet, M De Braekeleer
J. Med. Genet. 2002; 39: e32. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

C Falcinelli, L Iughetti, A Percesepe, G Calabrese, F Chiarelli, M Cisternino, L De Sanctis, I Pucarelli, G Radetti, M Wasniewska, G Weber, L Stuppia, S Bernasconi, A Forabosco
J. Med. Genet. 2002; 39: e33. [Extract] [Full text] [PDF] [Request Permissions]