LOBSTEINS DISEASE
\lˈɒbsta͡ɪnz dɪzˈiːz], \lˈɒbstaɪnz dɪzˈiːz], \l_ˈɒ_b_s_t_aɪ_n_z d_ɪ_z_ˈiː_z]\
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Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.