Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
- 30 September 2004
- journal article
- research article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 115 (6), 515-524
- https://doi.org/10.1007/s00439-004-1187-6
Abstract
No abstract availableKeywords
This publication has 44 references indexed in Scilit:
- Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsNature Genetics, 2004
- Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disordersJournal of Medical Genetics, 2004
- Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2American Journal of Human Genetics, 2003
- RETRACTED: The Chromatin-Remodeling Complex WINAC Targets a Nuclear Receptor to Promoters and Is Impaired in Williams SyndromeCell, 2003
- Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeHuman Genetics, 2001
- Solution structure of the PHD domain from the KAP-1 corepressor: structural determinants for PHD, RING and LIM zinc-binding domainsThe EMBO Journal, 2001
- Structure of the PHD Zinc Finger from Human Williams-Beuren Syndrome Transcription FactorJournal of Molecular Biology, 2000
- The Nuclear Factor SPBP Contains Different Functional Domains and Stimulates the Activity of Various Transcriptional ActivatorsPublished by Elsevier BV ,2000
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeNature Genetics, 1997
- WWW-query: An on-line retrieval system for biological sequence banksBiochimie, 1996