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Human Mutation|August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in FranceM Claustres, C Guittard, D Bozon, et al.Human Mutation|September 12, 2000
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpointsE Otto, R Betz, C Rensing, et al.Human Mutation|September 12, 2000
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndromeD Wang, P Kranz-Eble, D C De VivoHuman Mutation|September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)E Schollen, L Dorland, T J de Koning, et al.Human Mutation|September 12, 2000
Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemiaO Jakobovitz-Picard, D Olchovsky, M Berezin, et al.Human Mutation|September 12, 2000
MEFV mutations in Behçet's diseaseI Touitou, X Magne, N Molinari, et al.Human Mutation|September 12, 2000
Sequence variation within the RPGR gene: evidence for a founder complex alleleI Zito, A Morris, P Tyson, et al.Human Mutation|September 12, 2000
Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populationsH Pang, N Fujitani, M Soejima, et al.Human Mutation|September 12, 2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1E Girodon-Boulandet, J Pantel, C Cazeneuve, et al.Human Mutation|September 12, 2000
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosaR Gardella, S Barlati, N Zoppi, et al.Pageof 583