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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: warrington ja. Science. 1996 Mar 22;271(5256):1731-4. doi: 10.1126/science.271.5256.1731. Science. 1996. PMID: 8596935
Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome.
Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, Wasmuth JJ, Patterson D, Sikela JM. Wilcox AS, et al. Among authors: warrington ja. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5857-61. doi: 10.1073/pnas.89.13.5857. Proc Natl Acad Sci U S A. 1992. PMID: 1321425 Free PMC article.
56 results