Genetic and clinical heterogeneity in the genetic
- Авторлар: Lehmann A.R1, Fassihi H.2, Sarkany R.P2, Mohammed S.2
-
Мекемелер:
- Genome Damage and Stability Centre, University of Sussex
- National Xeroderma Pigmentosum Service, Department of Photodermatology, Guy's and St Thomas’ Foundation Trust
- Шығарылым: Том 14, № 3 (2019)
- Беттер: 58-59
- Бөлім: 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
Дәйексөз келтіру
Ашық рұқсат
Рұқсат берілді
Аннотация
Толық мәтін
Авторлар туралы
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
Әдебиет тізімі
- 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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