FANCONI ANEMIA
\fankˈə͡ʊni ɐnˈiːmi͡ə], \fankˈəʊni ɐnˈiːmiə], \f_a_n_k_ˈəʊ_n_i_ ɐ_n_ˈiː_m_iə]\
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Congenital disorder affecting all bone marrow elements, resulting in anemia, leukopenia, and thrombopenia, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous chromosome breakage is a feature of this disease along with predispostion to leukemia. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD, FANCE, FANCF, FANCG. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM# 227650, April 23, 2001)
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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.