NEUROFIBROMATOSES
\njˈuːɹəfˌɪbɹəmˌatə͡ʊzɪz], \njˈuːɹəfˌɪbɹəmˌatəʊzɪz], \n_j_ˈuː_ɹ_ə_f_ˌɪ_b_ɹ_ə_m_ˌa_t_əʊ_z_ɪ_z]\
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A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44 (4):267-72)
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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.