GEN-03 GENOTYPE-PHENOTYPE CORRELATION IN 111 FAMILIES OF VON HIPPEL-LINDAU DISEASE IN JAPAN

BACKGROUND AND AIM: von Hippel-Lindau (VHL) disease is a hereditary disease which manifest central nervous system (CNS) hemangioblastoma, retinal angioma, renal cell carcinoma (RCC), pheochromocytoma, endolymphatic sac tumor, and pancreas cyst. The VHL gene is located at 3p25.3 and is corresponding...

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Detalles Bibliográficos
Autores principales: Kanno, Hiroshi, Yoshizumi, Tetsuya, Shinonaga, Masamichi, Yao, Masahiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Abstracts
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213215/
http://dx.doi.org/10.1093/noajnl/vdz039.034

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