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We have 2 results for Missense mutation.
Information on Lamellar Ichthyosis 1 Citation Lamellar ichthyosis have accelerated epidermal turnover with proliferative hyperkeratosis, in contrast to retention hyperkeratosis. Lamellar ichthyosis is a rare skin condition passed down through families (inherited), which affects a newborn. The newborn is born encased in a collodion membrane that sheds within 10-14 days. The shedding of the membrane reveals generalized scaling with variable redness of the skin. The scaling may be fine or plate like, resembling fish skin. It is also characte, technorati.com
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1 Citation ?To characterize a novel Asp384Asn (D384N) mutant myocilin which causes juvenile-onset open-angle glaucoma (JOAG) and investigate the correction of mutant phenotype by a natural osmolyte, trimethylamine N-oxide (TMAO).? 1 Researchers from the Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong, China; and Beijing Tongren Hospital, Capital University of Medical Sciences, Beijing, China; have presented an article titled: ?A natural osmolyte corrects the disease phenot, technorati.com
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