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Human Mutation|July 20, 2001
Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutationsL Lin, P LobelHuman Mutation|July 20, 2001
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemiaM S Nauck, W Köster, K Dörfer, et al.Human Mutation|January 4, 2001
Jagged1 mutations in alagille syndromeN B Spinner, R P Colliton, C Crosnier, et al.Human Mutation|January 4, 2001
Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticumJ Perdu, D P GermainHuman Mutation|January 4, 2001
Exon skipping in the ATM gene in normal individuals: the effect of blood sample storage on RT-PCR analysisG W Birrell, J R Ramsay, J J Tung, et al.Human Mutation|January 4, 2001
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and LeipzigH Bochmann, J Geisel, W Herrmann, et al.Human Mutation|January 4, 2001
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuriaA X Acosta, W A Silva, T M Carvalho, et al.Human Mutation|March 10, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevanceA Rossi, A Superti-FurgaHuman Mutation|March 10, 2001
Mutations in the human DHCR7 geneM Witsch-Baumgartner, J Löffler, G UtermannHuman Mutation|June 1, 2001
Transthyretin mutations in hyperthyroxinemia and amyloid diseasesM J SaraivaPageof 583