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Human Mutation|November 21, 2002
Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemiaMichael P Okoh, Leena Kainulainen, Kaarina Heiskanen, et al.Human Mutation|November 21, 2002
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patientsMandy L Heritage, John C MacMillan, Gregory J AndersonHuman Mutation|January 1, 1993
Rhodopsin mutations in autosomal dominant retinitis pigmentosaM al-Maghtheh, C Gregory, C Inglehearn, et al.Human Mutation|January 1, 1993
A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from PetersburgM J Mandelshtam, B M Lipovetskyi, A L Schwartzman, et al.Human Mutation|January 1, 1993
Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplificationS NørbyHuman Mutation|January 1, 1995
Molecular basis of dihydropteridine reductase deficiencyP M Smooker, R G CottonHuman Mutation|January 1, 1995
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian populationM P Russo, G Romeo, M Devoto, et al.Human Mutation|January 1, 1995
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunismJ Hone, D Accili, H Psiachou, et al.Human Mutation|January 1, 1995
Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotideT Bienvenu, C Cazeneuve, J C Kaplan, et al.Human Mutation|January 1, 1995
Detection and genetic analysis of beta-thalassemia mutations by competitive oligoprimingA Athanassiadou, A Papachatzopoulou, R A GibbsPageof 583