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Human Mutation|September 12, 2000
BRCA1 mutation analysis in breast/ovarian cancer families from GreeceI Konstantopoulou, C Kroupis, A Ladopoulou, et al.
Human Mutation|February 19, 2000
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Human Mutation|February 19, 2000
Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemiaW Kugler, C Willaschek, C Holtz, et al.
Human Mutation|February 19, 2000
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)T Salonen, I Järvelä, L Peltonen, et al.
Human Mutation|February 19, 2000
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuriaS Sibani, B Christensen, E O'Ferrall, et al.
Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
Human Mutation|December 29, 1999
Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germlineA R Jaloma-Cruz, W A Scaringe, J B Drost, et al.
Human Mutation|March 1, 2000
Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. OnlineM Neuner-Jehle, F Munier, A Kobetz, et al.
Human Mutation|October 26, 1999
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defectsS Tuffery-Giraud, S Chambert, J Demaille, et al.
Human Mutation|October 26, 1999
Jagged-1 mutation analysis in Italian Alagille syndrome patientsG Pilia, M Uda, D Macis, et al.
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