Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which lead...

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Detalles Bibliográficos
Autores principales: Onodera, Shoko, Saito, Akiko, Hasegawa, Daigo, Morita, Nana, Watanabe, Katsuhito, Nomura, Takeshi, Shibahara, Takahiko, Ohba, Shinsuke, Yamaguchi, Akira, Azuma, Toshifumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600381/
https://www.ncbi.nlm.nih.gov/pubmed/28915250
http://dx.doi.org/10.1371/journal.pone.0184702

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