A novel PTCH1 mutation in a patient with Gorlin syndrome

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Okamoto, Nana, Naruto, Takuya, Kohmoto, Tomohiro, Komori, Takahide, Imoto, Issei
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2014
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785514/
https://ncbi.nlm.nih.gov/pubmed/27081512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.22
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