Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma

Human Mutation

Volumn 12, Issue 6, 1998, Pages 424-430

  Olschwang, Sylviane ^a   Richard, Stéphane ^b   Boisson, Cécile ^a   Giraud, Sophie ^c   Laurent Puig, Pierre ^a   Resche, François ^d   Thomas, Gilles ^a  

^a FONDATION JEAN DAUSSET CEPH   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

^d CHU de Nantes   (France)

Author keywords

Germline mutation; Hemangioblastoma; VHL gene; Von Hippel Lindau disease

Indexed keywords

DNA;

ADULT; ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; HEMANGIOBLASTOMA; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; OPEN READING FRAME; PRIORITY JOURNAL; SILENT GENE; VON HIPPEL LINDAU DISEASE;

ADULT; BASE SEQUENCE; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HEMANGIOBLASTOMA; HIPPEL-LINDAU DISEASE; HUMANS; LIGASES; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; PROTEINS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 0031762403     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:6<424::AID-HUMU9>3.0.CO;2-H     Document Type: Article

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