Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease-Reference-Cited by-同舟云学术

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Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease

Published:2014-07-31 Issue:9 Volume:59 Page:488-493
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hwang Sena,Ku Cheol Ryong,Lee Ji In,Hur Kyu Yeon,Lee Myung-Shik,Lee Chul-Ho,Koo Kyo Yeon,Lee Jin-Sung,Rhee Yumie

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201461.pdf

Reference38 articles.

1. Maher, E. R. & Kaelin, W. G. von Hippel–Lindau disease. Medicine 76, 381–391 (1997).

2. Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F. M., Orcutt, M. L. et al. Identification of the von Hippel–Lindau disease tumor suppressor gene. Science 260, 1317–1320 (1993).

3. Maher, E. R., Yates, J. R., Harries, R., Benjamin, C., Harris, R., Moore, A. T. et al. Clinical features and natural history of von Hippel–Lindau disease. Q. J. Med. 77, 1151–1163 (1990).

4. Nielsen, S. M., Rubinstein, W. S., Thull, D. L., Armstrong, M. J., Feingold, E., Stang, M. T. et al. Genotype–phenotype correlations of pheochromocytoma in two large von Hippel–Lindau (VHL) type 2A kindreds with different missense mutations. Am. J. Med. Genet. A 155A, 168–173 (2011).

5. Mettu, P., Agron, E., Samtani, S., Chew, E. Y. & Wong, W. T. Genotype–phenotype correlation in ocular von Hippel–Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. Invest. Ophthalmol. Vis. Sci. 51, 4464–4470 (2010).

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1. Clinical Implications of Germline Pathogenic Variants in the VHL Gene;Von Hippel-Lindau Disease;2024

2. Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis;Ophthalmic Genetics;2023-01-30

3. Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients;Korean Journal of Ophthalmology;2022-12-05

4. Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report;BMC Ophthalmology;2022-11-16

5. Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel–Lindau Disease;Annals of Laboratory Medicine;2022-05-01

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