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

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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Bibliographic Details
Main Authors: Kei-ichi Morita, Takuya Naruto, Kousuke Tanimoto, Chisato Yasukawa, Yu Oikawa, Kiyoshi Masuda, Issei Imoto, Johji Inazawa, Ken Omura, Hiroyuki Harada
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4636311?pdf=render

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http://europepmc.org/articles/PMC4636311?pdf=render

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