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Human Mutation|January 1, 1994
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutationA Winterpacht, M Hilbert, U Schwarze, et al.
Human Mutation|January 1, 1994
A robotics-assisted procedure for large scale cystic fibrosis mutation analysisJ M DeMarchi, C S Richards, R G Fenwick, et al.
Human Mutation|August 19, 2006
Major affective disorders and schizophrenia: a common molecular signature?Ann Van Den Bogaert, Jurgen Del-Favero, Christine Van Broeckhoven
Human Mutation|August 19, 2006
Duplications in the DMD geneS J White, A Aartsma-Rus, K M Flanigan, et al.
Human Mutation|August 19, 2006
KCNQ4: a gene for age-related hearing impairment?E Van Eyken, L Van Laer, E Fransen, et al.
Human Mutation|August 19, 2006
Mutations in RYR1 in malignant hyperthermia and central core diseaseRachel Robinson, Danielle Carpenter, Marie-Anne Shaw, et al.
Human Mutation|August 19, 2006
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type IIA L E Montalvo, B Bembi, M Donnarumma, et al.
Human Mutation|August 31, 2006
Unique substitution of CHEK2 and TP53 mutations implicated in primary prostate tumors and cancer cell linesLi Zheng, Fengwei Wang, Chiping Qian, et al.
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