OCULOCUTANEOUS ALBINISM
\ˌɒkjʊlˌɒkjuːtˈe͡ɪni͡əs ˈalbɪnˌɪzəm], \ˌɒkjʊlˌɒkjuːtˈeɪniəs ˈalbɪnˌɪzəm], \ˌɒ_k_j_ʊ_l_ˌɒ_k_j_uː_t_ˈeɪ_n_iə_s ˈa_l_b_ɪ_n_ˌɪ_z_ə_m]\
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Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
By DataStellar Co., Ltd
Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.