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Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
by
Oh, Kyu-Seon
,
Khan, Sikandar G.
,
Jaspers, N.G.J.
,
Raams, Anja
,
Ueda, Takahiro
,
Lehmann, Alan
,
Friedmann, Peter S.
,
Emmert, Steffen
,
Gratchev, Alexi
,
Lachlan, Katherine
,
Lucassan, Anneke
,
Baker, Carl C.
,
Kraemer, Kenneth H.
Published in
Human mutation
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Human Mutation
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Subjects
Abnormalities, Multiple - Genetics
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Adult
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Alternative Splicing
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Carcinoma, Basal Cell - Genetics
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Cell Survival - Radiation Effects
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Cockayne Syndrome - Complications
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Demyelinating Diseases - Genetics
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Dna Helicases - Genetics
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Dna Helicases - Metabolism
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Dna Repair
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Dna-Binding Proteins - Genetics
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Dna-Binding Proteins - Metabolism
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Ercc3
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Eye Neoplasms - Genetics
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Female
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Gene Expression
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Genetics & Heredity
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Genome, Human
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Heterozygote
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Humans
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