Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Cybulski
C
C
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland. cezaryc@priv6.onet.pl
Krzystolik
K
K
Murgia
A
A
Górski
B
B
Debniak
T
T
Jakubowska
A
A
Martella
M
M
Kurzawski
G
G
Prost
M
M
Kojder
I
I
Limon
J
J
Nowacki
P
P
Sagan
L
L
Białas
B
B
Kałuza
J
J
Zdunek
M
M
Omulecka
A
A
Jaskólski
D
D
Kostyk
E
E
Koraszewska-Matuszewska
B
B
Haus
O
O
Janiszewska
H
H
Pecold
K
K
Starzycka
M
M
Słomski
R
R
Cwirko
M
M
Sikorski
A
A
Gliniewicz
B
B
Cyryłowski
L
L
Fiszer-Maliszewska
Ł
Ł
Gronwald
J
J
Tołoczko-Grabarek
A
A
Zajaczek
S
S
Lubiński
J
J
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