|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2003-7-8
|
|
pubmed:abstractText |
Autosomal-recessive polycystic kidney disease (ARPKD) is an important neonatal nephropathy characterized by fusiform dilation of collecting ducts, congenital hepatic fibrosis, and in some cases Caroli's disease. The ARPKD gene, PKHD1, has recently been identified. Herein we describe an effective method for PKHD1 mutation screening and the results from analysis of a novel ARPKD cohort.
|
|
pubmed:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0085-2538
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
64
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
391-403
|
|
pubmed:dateRevised |
2009-11-19
|
|
pubmed:meshHeading |
pubmed-meshheading:12846734-Adolescent,
pubmed-meshheading:12846734-Adult,
pubmed-meshheading:12846734-Child, Preschool,
pubmed-meshheading:12846734-Chromatography, High Pressure Liquid,
pubmed-meshheading:12846734-Cohort Studies,
pubmed-meshheading:12846734-DNA Mutational Analysis,
pubmed-meshheading:12846734-Female,
pubmed-meshheading:12846734-Genetic Testing,
pubmed-meshheading:12846734-Haplotypes,
pubmed-meshheading:12846734-Humans,
pubmed-meshheading:12846734-Infant,
pubmed-meshheading:12846734-Infant, Newborn,
pubmed-meshheading:12846734-Male,
pubmed-meshheading:12846734-Mutation, Missense,
pubmed-meshheading:12846734-Pedigree,
pubmed-meshheading:12846734-Polycystic Kidney, Autosomal Recessive,
pubmed-meshheading:12846734-Receptors, Cell Surface
|
|
pubmed:year |
2003
|
|
pubmed:articleTitle |
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
|
|
pubmed:affiliation |
Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA.
|
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|
