A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
视杆光感受器 PDE6 β 亚基的截短形式会干扰 β 亚基的抑制活性,从而导致常染色体显性遗传的先天性静止性夜盲症
期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0095768
Manes Gaël, Cheguru Pallavi, Majumder Anurima, Bocquet Béatrice, Sénéchal Audrey, Artemyev Nikolai O, Hamel Christian P, Brabet Philippe