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A clinically-relevant polymorphism in the Na +/taurocholate cotransporting polypeptide (NTCP) occurs at a rheostat position

A clinically-relevant polymorphism in the Na +/taurocholate cotransporting polypeptide (NTCP) occurs at a rheostat position
Posted by Anna
Conventionally, most of the substitution of amino acids in important protein positions is expected to eliminate the function. However, in some soluble globular proteins, we identify non-conservation
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Incontinentia pigmenti: multisistemic genodermatosis

Incontinentia pigmenti: multisistemic genodermatosis
Posted by Anna
Incontinence pigmenti is an X-linked genodermatosis generally lethal in males; thus, present almost exclusively in women. It is caused by mutations of loss-of-function in IKBKG (inhibitor of kappa
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