Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
Open Access
- 1 December 2008
- journal article
- Published by Elsevier in Kidney International
- Vol. 74 (11) , 1468-1479
- https://doi.org/10.1038/ki.2008.485
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spotsGenomics, 2008
- Tuberous sclerosis and polycystic kidney disease in a 3-month-old infantPediatric Nephrology, 2004
- ABCA3Gene Mutations in Newborns with Fatal Surfactant DeficiencyNew England Journal of Medicine, 2004
- Large deletions in the polycystic kidney disease 1 (PKD1) geneHuman Mutation, 2003
- Faculty Opinions recommendation of Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.Published by H1 Connect ,2003
- Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic diseaseJournal of Medical Genetics, 2003
- Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplificationNucleic Acids Research, 2002
- Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndromeJournal of Medical Genetics, 2002
- The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16Cell, 1994
- Identification and characterization of the tuberous sclerosis gene on chromosome 16Cell, 1993