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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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| Vydáno v: | Hum Genome Var |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group UK
2020
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| Témata: | |
| On-line přístup: | 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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