Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum LOD scores of 3.07 and 2.97 were found on chromosomes 7 and 17, respectively. Unexpectedly, we found these siblings to be homo...

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Detalhes bibliográficos
Main Authors: Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370276/
https://ncbi.nlm.nih.gov/pubmed/22608501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.021
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