The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
- 18 May 2004
- journal article
- case report
- Published by Springer Nature in Journal of Human Genetics
- Vol. 49 (6) , 308-311
- https://doi.org/10.1007/s10038-004-0145-4
Abstract
Journal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human genetics, including medical genetics and genomicsKeywords
This publication has 6 references indexed in Scilit:
- A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compactionChromosoma, 2002
- Identification and expression of a mouse ortholog of A2BP1Mammalian Genome, 2001
- A novel protein with RNA-binding motifs interacts with ataxin-2Human Molecular Genetics, 2000
- Integration of Transcript and Genetic Maps of Chromosome 16 at Near-1-Mb Resolution: Demonstration of a “Hot Spot” for Recombination at 16p12Genomics, 1995
- De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.1991
- Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting.1990