Cargando…
Molecular Genetic Diagnosis of von Hippel‐Lindau Disease: Analysis of Five Japanese Families
We analyzed deoxyribonucleic acids from blood samples of five Japanese von Hippel‐Lindau (VHL) disease families (three familial cases, two new mutations) for the presence of VHL gene mutations by single‐strand conformational polymorphism analysis and direct sequencing. Four of the five families show...
Autores principales: | Kanno, Hiroshi, Shuin, Taro, Kondo, Keiichi, Ito, Susumu, Hosaka, Masahiko, Torigoe, Soichiro, Fujii, Satoshi, Tanaka, Yoshihide, Yamamoto, Isao, Kim, Ilu, Yao, Masahiro |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Blackwell Publishing Ltd
1996
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921130/ https://www.ncbi.nlm.nih.gov/pubmed/8641976 http://dx.doi.org/10.1111/j.1349-7006.1996.tb00240.x |
Ejemplares similares
-
Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
por: Yoshida, Minoru, et al.
Publicado: (2000) -
Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan
por: TAKAYANAGI, Shunsaku, et al.
Publicado: (2017) -
Von Hippel-Lindau Disease
por: Hes, Frederik J, et al.
Publicado: (2005) -
Von Hippel-Lindau Disease and the Eye
por: Karimi, Saeed, et al.
Publicado: (2020) -
Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan
por: Tamura, Kenji, et al.
Publicado: (2023)