http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2011189667-A1
Outgoing Links
Predicate | Object |
---|---|
assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2d2284d8668e15de3bc5874be07bb89a |
classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate | 2009-01-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_27ae1c6f8ddf8bf6fc222c650f6e17be |
publicationDate | 2011-08-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber | US-2011189667-A1 |
titleOfInvention | Method of screening for novel exon 1 mutations in mecp2 associated with classical rett syndrome |
abstract | Recently, a new MECP2 isoform, which has an alternative N-terminus, transcribed from exon 1, was described. Since the incorporation of exon 1 into standard sequencing protocol for Rett syndrome, few patients with exon 1 mutations have been described and several groups have concluded that exon 1 mutations are a rare cause of Rett syndrome. The present invention provides an improved method of diagnosing Rett Syndrome by identifying two different mutations in exon 1 of the MECP2 gene, the first of which results in a switch from alanine to valine at the beginning of a polyalanine stretch, and the second of which results in a disruption of the ATG initiation codon of exon 1. Patients having either such mutation fit the clinical criteria for classic Rett syndrome, and further support previous reports that exon 1 mutations may be associated with a severe phenotype. |
priorityDate | 2008-01-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 44.