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Gene Information
Gene symbol: XPA
Gene name: xeroderma pigmentosum, complementation group A
HGNC ID: 12814
Synonyms: XPAC, XP1
Related Genes
Related Sentences
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PMID |
Sentence |
1 |
3943665
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Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families.
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2 |
3943665
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The hypothesis that heterozygous carriers of genes for certain autosomal recessive syndromes may be predisposed to diabetes was tested by comparing diabetes incidence from age 20 to 69 yr in blood relatives to that in spouse controls among 7999 adult family members of patients with one of five autosomal recessive syndromes: ataxia-telangiectasia (A-T), Fanconi anemia (FA), xeroderma pigmentosum (XP), common variable immune deficiency (CVID), and severe combined immune deficiency (SCID).
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3 |
3943665
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Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families.
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4 |
3943665
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The hypothesis that heterozygous carriers of genes for certain autosomal recessive syndromes may be predisposed to diabetes was tested by comparing diabetes incidence from age 20 to 69 yr in blood relatives to that in spouse controls among 7999 adult family members of patients with one of five autosomal recessive syndromes: ataxia-telangiectasia (A-T), Fanconi anemia (FA), xeroderma pigmentosum (XP), common variable immune deficiency (CVID), and severe combined immune deficiency (SCID).
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5 |
12904819
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Mutations in POLH encoding pol eta are implicated in nearly 20% of xeroderma pigmentosum, a human disease characterized by extreme sensitivity to sunlight and predisposition to skin cancer.
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6 |
16428930
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This list comprises genetic diseases (xeroderma pigmentosum, glucose-6-phosphate dehydrogenase deficiency), autoimmune disorders (vitiligo, scleroderma, thyroiditis, perforating collagenosis), metabolic diseases (diabetes mellitus), cardiovascular diseases, neuro/psychiatric diseases and other medical conditions (hypoglycemia, hepatic cirrhosis, alcoholism).
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7 |
17626070
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To obtain further information that might help to elucidate the mechanism and preferred substrate configurations of preferential integration, we amplified junctions between AAV2 DNA and AAVS1 from AAV2-infected HeLaJW cells and cells with defective Artemis or xeroderma pigmentosum group A genes.
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