XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

BACKGROUND: X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on t...

Descripción completa

Detalles Bibliográficos
Autores principales: Stepp, Monica L, Cason, A Lauren, Finnis, Merran, Mangelsdorf, Marie, Holinski-Feder, Elke, Macgregor, David, MacMillan, Andrée, Holden, Jeanette JA, Gecz, Jozef, Stevenson, Roger E, Schwartz, Charles E
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142315/
https://www.ncbi.nlm.nih.gov/pubmed/15850492
http://dx.doi.org/10.1186/1471-2350-6-16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142315/
https://www.ncbi.nlm.nih.gov/pubmed/15850492
http://dx.doi.org/10.1186/1471-2350-6-16

Ejemplares similares