نتایج جستجو برای: linked dominant
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O-acylation of hydroxyproline residues: effect on peptide-bond isomerization and collagen stability.
In collagen, strands of the sequence XaaYaaGly form a triple-helical structure. The Yaa residue is often (2S,4R)-4-hydroxyproline (Hyp). The inductive effect of the hydroxyl group of Hyp residues greatly increases collagen stability. Here, electron withdrawal by the hydroxyl group in Hyp and its 4S diastereomer (hyp) is increased by the addition of an acetyl group or trifluoroacetyl group. The ...
cutis laxa is an acquired or inherited condition characterized by redundant, sagging and inelastic skin. the inherited form is heterogeneous condition with autosomal dominant, autosomal recessive and x-linked inheritance. autosomal dominant cutis laxa is divided into three types, type i, ii and iii and the responsible genes are eln, fbln5 and aldh18a1 respectively. an x-linked form of cutis l...
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