A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01940-z.pdf
Reference66 articles.
1. Chacon-Camacho OF, Rodriguez-Dennen F, Camacho-Molina A, Rasmussen A, Alonso-Vilatela E, Zenteno JC (2010) Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico. Clin Exp Ophthalmol 38(3):277–283
2. Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, Orcutt ML, Duh FM, Glenn G, Green J (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 5(1):66–75
3. Chen J, Geng W, Zhao Y, Zhao H, Wang G, Huang F, Liu F, Geng X (2013) Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease. Clin Transl Oncol 15(5):391–397
4. Chew EY (2005) Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. Trans Am Ophthalmol Soc 103:495–511
5. Cho HJ, Ki CS, Kim JW (2009) Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. J Korean Med Sci 24(1):77–83
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