Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
- 15 September 2004
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 13 (1) , 124-126
- https://doi.org/10.1038/sj.ejhg.5201270
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeNature Genetics, 2004
- The major form of MeCP2 has a novel N-terminus generated by alternative splicingNucleic Acids Research, 2004
- Multiplex Ligation-Dependent Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome PatientsGenetic Testing, 2003
- Guidelines for reporting clinical features in cases with MECP2 mutationsBrain & Development, 2001
- MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal OriginAmerican Journal of Human Genetics, 2001
- Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG HotspotsAmerican Journal of Human Genetics, 1999
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Nature Genetics, 1999