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Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability
We describe the characterization of a gene for mild nonsyndromic autosomal recessive intellectual disability (ID) in two unrelated families, one from Austria, the other from Pakistan. Genome-wide single nucleotide polymorphism microarray analysis enabled us to define a region of homozygosity by desc...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082365/ https://www.ncbi.nlm.nih.gov/pubmed/24626631 http://dx.doi.org/10.1093/hmg/ddu115 |