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Human Mutation|January 1, 1993
Screening for molecular pathologies in Lesch-Nyhan syndromeM Boyd, W G Lanyon, J M ConnorHuman Mutation|January 1, 1993
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion IslandT Bienvenu, S Bousquet, C Herbulot, et al.Human Mutation|January 1, 1995
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindredD D Belsham, F Pereira, C R Greenberg, et al.Human Mutation|January 1, 1995
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Markiewicz, H S Chen, et al.Human Mutation|January 1, 1995
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IVS Thakker-Varia, D W Anderson, H Kuivaniemi, et al.Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.Human Mutation|January 1, 1995
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patientsK Sukegawa, S Tomatsu, T Fukao, et al.Human Mutation|January 1, 1995
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patientsE Boye, F Flinter, J Zhou, et al.Human Mutation|January 1, 1995
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysisA L Kneppers, P P Deutz-Terlouw, J T den Dunnen, et al.Human Mutation|January 1, 1995
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutationsR A Axton, D J BrockPageof 577