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Article

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.

Clinical genetics - 1 Feb 2009

Michel-Calemard L, Dijoud F, Till M, Lambert J C, Vercherat M, Tardy V, Coubes C, Morel Y

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19021639
DOI: 10.1111/j.1399-0004.2008.01106.x

Genes

PKHD1

Provenance

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Related research

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Research trail→

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Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.PMID 19021639Read ↗

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

Human gene mutations. Gene symbol: PKD1. Disease: Polycystic kidney disease.Semantic proximity Read ↗

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.Semantic proximity Read ↗

[Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].Semantic proximity Read ↗

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family.Semantic proximity Read ↗

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.Semantic proximity Read ↗

Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease.Semantic proximity Read ↗

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.Semantic proximity Read ↗

Autosomal dominant polycystic kidney disease: identification of two polymorphisms.Semantic proximity Read ↗

The long walk toward the PKD1 gene. The European PKD1 Consortium.Semantic proximity Read ↗

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