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[Linkage and linkage disequilibrium in the Finnish disease heritage].
de la Chapelle A, Hästbacka J, Lehesjoki AE, Sulisalo T, Kere J, Tahvanainen E, Sistonen P. de la Chapelle A, et al. Among authors: lehesjoki ae. Duodecim. 1994;110(7):654-64. Duodecim. 1994. PMID: 8542820 Review. Finnish. No abstract available.
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1).
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. Pennacchio LA, et al. Among authors: lehesjoki ae. Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731. Science. 1996. PMID: 8596935
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.
Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, de la Chapelle A. Tahvanainen E, et al. Among authors: lehesjoki ae. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7267-70. doi: 10.1073/pnas.91.15.7267. Proc Natl Acad Sci U S A. 1994. PMID: 8041778 Free PMC article.
251 results