Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland. cezaryc@priv6.onet.pl
C
C
Cybulski
K
K
Krzystolik
A
A
Murgia
B
B
Górski
T
T
Debniak
A
A
Jakubowska
M
M
Martella
G
G
Kurzawski
M
M
Prost
I
I
Kojder
J
J
Limon
P
P
Nowacki
L
L
Sagan
B
B
Białas
J
J
Kałuza
M
M
Zdunek
A
A
Omulecka
D
D
Jaskólski
E
E
Kostyk
B
B
Koraszewska-Matuszewska
O
O
Haus
H
H
Janiszewska
K
K
Pecold
M
M
Starzycka
R
R
Słomski
M
M
Cwirko
A
A
Sikorski
B
B
Gliniewicz
L
L
Cyryłowski
Ł
Ł
Fiszer-Maliszewska
J
J
Gronwald
A
A
Tołoczko-Grabarek
S
S
Zajaczek
J
J
Lubiński
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics; D011044:Poland; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human