|
|
Volumn 241, Issue 3, 2003, Pages 241-244
|
|
von Hippel-Lindau disease type 2A in a family a duplicated 21-base-pair in-frame insertion mutation in the VHL gene
|
|
Author keywords
[No Author keywords available]
|
|
Indexed keywords
GENE PRODUCT;
NUCLEOTIDE;
UNCLASSIFIED DRUG;
VASCULOTROPIN;
VON HIPPEL LINDAU PROTEIN;
LIGASE;
TUMOR SUPPRESSOR PROTEIN;
UBIQUITIN PROTEIN LIGASE;
VHL PROTEIN, HUMAN;
ADRENAL TUMOR;
ADULT;
ARTICLE;
AUTOSOMAL DOMINANT INHERITANCE;
BASE PAIRING;
BRAIN HEMANGIOMA;
CASE REPORT;
CENTRAL NERVOUS SYSTEM TUMOR;
CLINICAL FEATURE;
CODON;
DISEASE ASSOCIATION;
EXON;
FAMILY STUDY;
FEMALE;
FLUORESCENCE ANGIOGRAPHY;
GENE AMPLIFICATION;
GENE DUPLICATION;
GENE INSERTION;
GENE MUTATION;
GENE OVEREXPRESSION;
GENE SEQUENCE;
GENETIC ANALYSIS;
GENETIC ASSOCIATION;
GENOTYPE PHENOTYPE CORRELATION;
HEMANGIOMA;
HUMAN;
INFORMED CONSENT;
JAPAN;
KIDNEY TUMOR;
MOLECULAR CLONING;
MOLECULAR GENETICS;
NUCLEOTIDE SEQUENCE;
PHEOCHROMOCYTOMA;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
RETINA BLOOD VESSEL OCCLUSION;
RETINA DETACHMENT;
RETINA DISEASE;
VITRECTOMY;
VITREOUS HEMORRHAGE;
VON HIPPEL LINDAU DISEASE;
AMINO ACID SEQUENCE;
GENETICS;
GENOTYPE;
MIDDLE AGED;
MUTATION;
PATHOLOGY;
PEDIGREE;
PHENOTYPE;
RETINA TUMOR;
ADRENAL GLAND NEOPLASMS;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
DNA MUTATIONAL ANALYSIS;
EXONS;
FEMALE;
FLUORESCEIN ANGIOGRAPHY;
GENE DUPLICATION;
GENOTYPE;
HEMANGIOMA;
HIPPEL-LINDAU DISEASE;
HUMANS;
LIGASES;
MIDDLE AGED;
MOLECULAR SEQUENCE DATA;
MUTATION;
PEDIGREE;
PHENOTYPE;
PHEOCHROMOCYTOMA;
POLYMERASE CHAIN REACTION;
RETINAL NEOPLASMS;
TUMOR SUPPRESSOR PROTEINS;
UBIQUITIN-PROTEIN LIGASES;
VITREOUS HEMORRHAGE;
VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;
|
|
EID: 0038644518
PISSN: 0721832X
EISSN: None
Source Type: Journal
DOI: 10.1007/s00417-003-0631-y Document Type: Article |
|
Times cited : (6)
|
|
References (6)
|
