词条 | Excinuclease |
释义 |
A deficiency of excinuclease occurs in a rare autosomal recessive disease called xeroderma pigmentosum. Diagnosis of this disease is done by measuring the enzyme's level in white blood cells in a blood sample. Symptoms in children include extreme UV sensitivity, excessive freckling, multiple skin cancers and corneal ulcerations. Typically, these symptoms are seen during a child's first sun exposure.[2] {{Enzyme-stub}}Notes1. ^{{cite book |last1=Berg |first1=J.M. |last2=Tymoczko |first2=J.L. |last3=Gatto |first3=G.J. |last4=Stryer |first4=L. |title=Biochemistry |date=2015 |publisher=W.H. Freeman and Company |location=New York |isbn=978-1-4641-2610-9 |page=849 |edition=8th}} 2. ^{{cite web |title=Xeroderma pigmentosum |url=https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum# | website = Genetics Home Reference | publisher = U.S. Library of Medicine |date=May 2010 |access-date=11 December 2018 }} 1 : DNA repair |
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