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Start Over Author "Segura, José L" Region dominican republic
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1. [Cockayne syndrome: a new mutation in the ERCC8 gene].

Author

Conchello-Monleón R, Peña-Segura JL, Tello-Martín Á, Monge-Galindo L, Cabrejas-Lalmolda A, Miramar MD, and López-Pisón J

Subjects
Brain pathology, Cerebral Palsy diagnosis, Cockayne Syndrome diagnosis, Cockayne Syndrome epidemiology, Cockayne Syndrome pathology, Codon genetics, Diagnostic Errors, Disease Progression, Dominican Republic ethnology, Follow-Up Studies, Homozygote, Humans, Infant, Magnetic Resonance Imaging, Male, Phenotype, Sequence Analysis, DNA, Cockayne Syndrome genetics, Codon, Nonsense, DNA Repair Enzymes genetics, Transcription Factors genetics
Published
2012

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