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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
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pubmed:dateCreated |
1999-8-3
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|
pubmed:abstractText |
Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous, with at least three chromosomal loci accounting for the disease. Mutations in the PKD2 gene on the long arm of chromosome 4 are expected to be responsible for approximately 15% of cases of ADPKD.
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Jul
|
|
pubmed:issn |
0085-2538
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
56
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
28-33
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pubmed:dateRevised |
2007-10-18
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pubmed:meshHeading |
pubmed-meshheading:10411676-Amino Acid Sequence,
pubmed-meshheading:10411676-Base Sequence,
pubmed-meshheading:10411676-Exons,
pubmed-meshheading:10411676-Frameshift Mutation,
pubmed-meshheading:10411676-Humans,
pubmed-meshheading:10411676-Membrane Proteins,
pubmed-meshheading:10411676-Mutation,
pubmed-meshheading:10411676-Mutation, Missense,
pubmed-meshheading:10411676-Polycystic Kidney, Autosomal Dominant,
pubmed-meshheading:10411676-Polymorphism, Genetic,
pubmed-meshheading:10411676-Survival Analysis,
pubmed-meshheading:10411676-TRPP Cation Channels
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|
pubmed:year |
1999
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|
pubmed:articleTitle |
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
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|
pubmed:affiliation |
Servicio de Nefrología, Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Universidad de Barcelona, Spain. rtorra@medicina.ub.es
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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