CLN8 disease caused by large genomic deletions

BACKGROUND: The presence of deletions can complicate genetic diagnosis of autosomal recessive disease. METHOD: The DNA of patients was analyzed in a diagnostic setting. RESULTS: We present three unrelated patients each carrying deletions that encompass the 37 kb CLN8 gene and discuss their phenotype...

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Detalles Bibliográficos
Autores principales: Beesley, Clare, Guerreiro, Rita J., Bras, Jose T., Williams, Ruth E., Taratuto, Ana Lia, Eltze, Christin, Mole, Sara E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241206/
https://www.ncbi.nlm.nih.gov/pubmed/28116333
http://dx.doi.org/10.1002/mgg3.263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241206/
https://www.ncbi.nlm.nih.gov/pubmed/28116333
http://dx.doi.org/10.1002/mgg3.263

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