Cockayne syndrome: a new mutation in the ERCC8 gene

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Bibliographic Details
Published inRevista de neurologiá Vol. 55; no. 4; p. 250
Main Authors Conchello-Monleón, Rocío, Peña-Segura, José L, Tello-Martín, Ángela, Monge-Galindo, Lorena, Cabrejas-Lalmolda, Ana, Miramar, M Dolores, López-Pisón, Javier
Format Journal Article
LanguageSpanish
Published Spain 16.08.2012
Subjects
Brain - pathology
Cerebral Palsy - diagnosis
Cockayne Syndrome - diagnosis
Cockayne Syndrome - epidemiology
Cockayne Syndrome - genetics
Cockayne Syndrome - pathology
Codon - genetics
Codon, Nonsense
Diagnostic Errors
Disease Progression
DNA Repair Enzymes - genetics
Dominican Republic - ethnology
Follow-Up Studies
Homozygote
Humans
Infant
Magnetic Resonance Imaging
Male
Phenotype
Sequence Analysis, DNA
Transcription Factors - genetics
Dominican Republic
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ISSN:1576-6578
DOI:10.33588/rn.5504.2012076