نتایج جستجو برای: xeroderma pigmentosum
تعداد نتایج: 1731 فیلتر نتایج به سال:
BACKGROUND AND OBJECTIVES Xeroderma Pigmentosum is a rare, autosomal recessive disease characterized by the premature development of neoplasias due to an exacerbated hypersensitivity to UV radiation. These manifestations are due to DNA excision and repair mechanism damage. As compared to normal individuals, these patients have a 1000-fold increased risk for developing neoplasias on sun-exposed ...
A shuttle vector plasmid, pZ189, carrying a bacterial suppressor tRNA marker gene, was treated with ultraviolet radiation and propagated in cultured skin cells from a patient with the skin-cancer-prone, DNA repair-deficient disease xeroderma pigmentosum and in repair-proficient cells. After replication in the human cells, progeny plasmids were purified. Plasmid survival and mutations inactivati...
INTRODUCTION Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. OBSERVATION The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. Th...
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