A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00712.x/fullpdf
Reference11 articles.
1. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome;Amir;J Med Genet,2005
2. The major form of MeCP2 has a novel N-terminus generated by alternative splicing;Kriaucionis;Nucleic Acids Res,2004
3. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome;Mnatzakanian;Nat Genet,2004
4. Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome;Ravn;Clin Genet,2005
5. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene;Bartholdi;Clin Genet,2006
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