JUNCTIONAL EPIDERMOLYSIS BULLOSA
\d͡ʒˈʌŋkʃənə͡l ˌɛpɪdˌɜːmˈɒləsˌɪs bʊlˈə͡ʊsə], \dʒˈʌŋkʃənəl ˌɛpɪdˌɜːmˈɒləsˌɪs bʊlˈəʊsə], \dʒ_ˈʌ_ŋ_k_ʃ_ə_n_əl ˌɛ_p_ɪ_d_ˌɜː_m_ˈɒ_l_ə_s_ˌɪ_s b_ʊ_l_ˈəʊ_s_ə]\
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Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
By DataStellar Co., Ltd
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.