A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Molecular Biology,General Medicine,Pathology and Forensic Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00795-019-00222-9.pdf
Reference10 articles.
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3. Shimokawa T, Svard J, Heby-Henricson K, Teglund S, Toftgard R, Zaphiropoulos PG (2007) Distinct roles of first exon variants of the tumor-suppressor patched1 in Hedgehog signaling. Oncogene 26(34):4889–4896. https://doi.org/10.1038/sj.onc.1210301
4. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30(6):460–464
5. Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
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