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Human Mutation|October 23, 2001
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domainP Mella, R F Schumacher, T Cranston, et al.Human Mutation|October 23, 2001
Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell functionJ Ek, N Grarup, S A Urhammer, et al.Human Mutation|October 23, 2001
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemiaJ A Hubacek, K E Berge, J C Cohen, et al.Human Mutation|October 23, 2001
Missense mutations of human homeoboxes: A reviewA V D'Elia, G Tell, I Paron, et al.Human Mutation|October 23, 2001
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysisA B García-García, J T Real, O Puig, et al.Human Mutation|December 19, 2001
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenitaJ K Phelan, E R McCabeHuman Mutation|December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsS Kemp, A Pujol, H R Waterham, et al.Human Mutation|December 19, 2001
Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani populationM Simsek, N Al-Wardy, A Al-Khayat, et al.Human Mutation|December 19, 2001
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndromeP Comeglio, A L Evans, G W Brice, et al.Human Mutation|December 19, 2001
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenitaY H Zhang, B L Huang, K Anyane-Yeboa, et al.Pageof 583