Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene

1995 ◽  
Vol 4 (11) ◽  
pp. 2139-2143 ◽  
Author(s):  
F. M. Richards ◽  
S. J. Payne ◽  
B. Zbar ◽  
N. A. Affara ◽  
M. A. Ferguson-Smith ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Disease Gene ◽  
De Novo ◽  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Molecular Analysis of the von Hippel-Lindau Disease Gene

2001 ◽  
pp. 193-216
Author(s):  
Allen Chernoff ◽  
Viera Kasparcova ◽  
W. Marston Linehan ◽  
Catherine A. Stolle
Keyword(s):  
Molecular Analysis ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Germline mutations in the von Hippel–Lindau disease (VHL) gene in mainland Chinese families

2008 ◽  
Vol 134 (11) ◽  
pp. 1211-1218 ◽  
Author(s):  
Jin Zhang ◽  
Yiran Huang ◽  
Jiahua Pan ◽  
Dongming Liu ◽  
Lixin Zhou ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Chinese Families ◽  
Mainland Chinese ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease

2020 ◽  
Vol 243 ◽  
pp. 1-6
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Masood Jamil ◽  
Muhammad Aslam ◽  
Halah Abalkhail ◽  
Fouad Al-Dayel ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas

2005 ◽  
Author(s):  
Hio Kang ◽  
Il-Jin Kim ◽  
Jae-Hyun Park ◽  
Yong Shin ◽  
Sang-Geun Jang ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Korean Patients ◽  
Von Hippel Lindau Disease

scholarly journals Germline mutations in theVHLgene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family

2016 ◽  
Vol 17 (6) ◽  
pp. 599-603 ◽  
Author(s):  
Ping Yuan ◽  
Qipeng Sun ◽  
Hao Liang ◽  
Wenjun Wang ◽  
Ling Li ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Von Hippel Lindau ◽  
Renal Lesions ◽  
Von Hippel Lindau Disease ◽  
Disease Family

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease

2001 ◽  
Vol 160 (7) ◽  
pp. 421-424 ◽  
Author(s):  
Sabine Frenzel ◽  
Thomas W. Apel ◽  
Peter H. Heidemann ◽  
Klaus Zerres ◽  
Hartmut P. H. Neumann ◽  
...  
Keyword(s):  
De Novo ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease
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