Genetic and clinical heterogeneity in the genetic
- 作者: Lehmann A.R1, Fassihi H.2, Sarkany R.P2, Mohammed S.2
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隶属关系:
- Genome Damage and Stability Centre, University of Sussex
- National Xeroderma Pigmentosum Service, Department of Photodermatology, Guy's and St Thomas’ Foundation Trust
- 期: 卷 14, 编号 3 (2019)
- 页面: 58-59
- 栏目: Articles
- ##submission.dateSubmitted##: 16.01.2023
- ##submission.datePublished##: 15.09.2019
- URL: https://genescells.ru/2313-1829/article/view/122255
- DOI: https://doi.org/10.23868/gc122255
- ID: 122255
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作者简介
A. Lehmann
Genome Damage and Stability Centre, University of Sussex
Email: a.r.lehmann@sussex.ac.uk
Brighton BN1 9RQ, UK
H. Fassihi
National Xeroderma Pigmentosum Service, Department of Photodermatology, Guy's and St Thomas’ Foundation TrustLondon SE1 7EH, UK Brighton BN1 9RQ, UK
R. Sarkany
National Xeroderma Pigmentosum Service, Department of Photodermatology, Guy's and St Thomas’ Foundation TrustLondon SE1 7EH, UK Brighton BN1 9RQ, UK
S. Mohammed
National Xeroderma Pigmentosum Service, Department of Photodermatology, Guy's and St Thomas’ Foundation TrustLondon SE1 7EH, UK Brighton BN1 9RQ, UK
参考
- Fassihi H., Sethi M., Fawcett H. et al. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. PNAS USA 2016; E1236-45.
- Sethi M., Haque S., Fawcett H. et al. A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan. Science J. Invest Dermatol. 2016; 136: 869-72.
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