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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1997-6-5
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pubmed:abstractText |
To study the presence of germline mutations in the von Hippel-Lindau gene (vhl) in a kindred with a predominance of familial phaeochromocytoma in order to confirm the diagnosis of von Hippel-Lindau disease (VHLD) as well as to identify asymptomatic members.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0300-0664
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
46
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
359-63
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:9156047-Adolescent,
pubmed-meshheading:9156047-Adrenal Gland Neoplasms,
pubmed-meshheading:9156047-Adult,
pubmed-meshheading:9156047-Female,
pubmed-meshheading:9156047-Germ-Line Mutation,
pubmed-meshheading:9156047-Humans,
pubmed-meshheading:9156047-Male,
pubmed-meshheading:9156047-Middle Aged,
pubmed-meshheading:9156047-Pedigree,
pubmed-meshheading:9156047-Pheochromocytoma,
pubmed-meshheading:9156047-Polymerase Chain Reaction,
pubmed-meshheading:9156047-Sequence Analysis, DNA,
pubmed-meshheading:9156047-von Hippel-Lindau Disease
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pubmed:year |
1997
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pubmed:articleTitle |
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.
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pubmed:affiliation |
Department of Pathology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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