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Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1).
Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731.
Science. 1996.
PMID: 8596935
Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene.
Stone NE, Fan JB, Willour V, Pennacchio LA, Warrington JA, Hu A, de la Chapelle A, Lehesjoki AE, Cox DR, Myers RM.
Stone NE, et al.
Genome Res. 1996 Mar;6(3):218-25. doi: 10.1101/gr.6.3.218.
Genome Res. 1996.
PMID: 8963899
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