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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2005-2-7
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pubmed:abstractText |
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by wide phenotypic variability, ranging from in utero detection with enlarged, echogenic kidneys to an adult presentation with congenital hepatic fibrosis. The ARPKD gene, PKHD1 , covers about 470 kb of DNA (67 exons), and mutation studies have found marked allelic heterogeneity with a high level of novel missense changes and neutral polymorphisms. To improve the prospects for molecular diagnostics and to study the origin of some relatively common mutations, the authors have developed a strategy for improved ARPKD haplotyping.
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pubmed:grant |
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1523-6838
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pubmed:author |
pubmed-author:AndersonSarah ASA,
pubmed-author:AvnerEllis DED,
pubmed-author:ConsugarMark BMB,
pubmed-author:CotoEliecerE,
pubmed-author:CunninghamJulie MJM,
pubmed-author:El-YoussefMonifM,
pubmed-author:HarrisPeter CPC,
pubmed-author:HildebrandtFriedhelmF,
pubmed-author:KantarciSibelS,
pubmed-author:PankratzV ShaneVS,
pubmed-author:RossettiSandroS,
pubmed-author:SweeneyWilliam EWE,
pubmed-author:TorraRoserR,
pubmed-author:TorresVicente EVE,
pubmed-author:UtschBorisB,
pubmed-author:WardChristopher JCJ
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
77-87
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:15696446-3' Flanking Region,
pubmed-meshheading:15696446-5' Flanking Region,
pubmed-meshheading:15696446-Adolescent,
pubmed-meshheading:15696446-Adult,
pubmed-meshheading:15696446-Child,
pubmed-meshheading:15696446-Cohort Studies,
pubmed-meshheading:15696446-DNA, Intergenic,
pubmed-meshheading:15696446-Female,
pubmed-meshheading:15696446-Genetic Markers,
pubmed-meshheading:15696446-Genotype,
pubmed-meshheading:15696446-Haplotypes,
pubmed-meshheading:15696446-Humans,
pubmed-meshheading:15696446-Male,
pubmed-meshheading:15696446-Microsatellite Repeats,
pubmed-meshheading:15696446-Molecular Diagnostic Techniques,
pubmed-meshheading:15696446-Mutation,
pubmed-meshheading:15696446-Polycystic Kidney, Autosomal Recessive,
pubmed-meshheading:15696446-Polymerase Chain Reaction,
pubmed-meshheading:15696446-Receptors, Cell Surface
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pubmed:year |
2005
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pubmed:articleTitle |
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
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pubmed:affiliation |
Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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