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Identification of a common mutation in patients with medium..:

Matsubara, Yoichi ; Narisawa, Kuniaki ; Miyabayashi, Shigeaki...
Biochemical and Biophysical Research Communications.  171 (1990)  1 - p. 498-505 , 1990
Link: https://doi.org/10.1016/0006-291x(90)91421-n