Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutat...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Nakase, Yoji, Hamada, Atsuko, Kitamura, Naoya, Hata, Tsuyoshi, Toratani, Shigeaki, Yamamoto, Tetsuya, Okamoto, Tetsuji
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7674431/
https://ncbi.nlm.nih.gov/pubmed/33298892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00126-6
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