Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2014

Krall Paola, Pineda Cristina, Ruiz Patricia, Ejarque Laia, Vendrell Teresa, Camacho Juan Antonio, Mendizábal Santiago, Oliver Artur, Ballarín José, Torra Roser, Ars Elisabet

Abstract excerpt

BACKGROUND: Genetic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is challenging due to the length and allelic heterogeneity of the PKHD1 gene. Mutations appear to be clustered at specific exons, depending on the geographic origin of the patient. We aimed to identify the PKHD1 exons most likely mutated in Spanish ARPKD patients. METHODS: Mutation analysis was performed in 50 ARPKD probands...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cost-Benefit Analysis
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Haplotypes

Share to Mutation

Share to Polycystic Kidney, Autosomal Recessive

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 24162162
DOI: 10.1007/s00467-013-2657-7

Genes

PKHD1
PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.PMID 24162162Read ↗

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Molecular diagnosis of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.Semantic proximity Read ↗

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).Semantic proximity Read ↗

Clinical characteristics and genotype-phenotype correlation for patients with autosomal recessive polycystic kidney disease and PKHD1 mutations.Semantic proximity Read ↗

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Semantic proximity Read ↗

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.Semantic proximity Read ↗

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSemantic proximity Read ↗

Molecular diagnosis of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.