Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis
- 1 March 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 66 (3) , 778-789
- https://doi.org/10.1086/302819
Abstract
No abstract availableKeywords
This publication has 33 references indexed in Scilit:
- Identification of a Novel Ran Binding Protein 2 Related Gene (RANBP2L1) and Detection of a Gene Cluster on Human Chromosome 2q11–q12Genomics, 1998
- Construction of a Gene Map of the Nephronophthisis Type 1 (NPHP1) Region on Human Chromosome 2q12–q13Genomics, 1998
- A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1Nature Genetics, 1997
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeNature Genetics, 1997
- The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPsHuman Molecular Genetics, 1997
- Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisHuman Molecular Genetics, 1996
- Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13Cytogenetic and Genome Research, 1996
- LIS2,Gene and Pseudogene, Homologous toLIS1(Lissencephaly 1), Located on the Short and Long Arms of Chromosome 2Genomics, 1995
- Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17Human Molecular Genetics, 1994
- Telomeric repeat from T. thermophila cross hybridizes with human telomeresNature, 1988