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Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Gorlin syndrome (GS) is an autosomal dominant disorder that predisposes affected individuals to developmental defects and tumorigenesis, and caused mainly by heterozygous germline PTCH1 mutations. Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients; the failure to...

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Detalles Bibliográficos
Autores principales:	Morita, Kei-ichi, Naruto, Takuya, Tanimoto, Kousuke, Yasukawa, Chisato, Oikawa, Yu, Masuda, Kiyoshi, Imoto, Issei, Inazawa, Johji, Omura, Ken, Harada, Hiroyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636311/ https://www.ncbi.nlm.nih.gov/pubmed/26544948 http://dx.doi.org/10.1371/journal.pone.0140480

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