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NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

Two familial and seven sporadic patients with neurofibromatosis 1—who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene—were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones b...

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Autori principali: Riva, Paola, Corrado, Lucia, Natacci, Federica, Castorina, Pierangela, Wu, Bai-Li, Schneider, Gretchen H., Clementi, Maurizio, Tenconi, Romano, Korf, Bruce R., Larizza, Lidia
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2000
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288315/
https://ncbi.nlm.nih.gov/pubmed/10631140
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