Microcephaly mutations | Nature Medicine
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Access through your institution Buy or subscribe A recent study provides new insights into the genetic underpinnings of a form of congenital microcephaly (_Neuron_ 80, 429–441). David
Goldstein and his colleagues studied four families with a similar neurological syndrome consisting of microcephaly, intellectual disability and seizures. Using exome sequencing, the authors
showed that the condition is caused by recessive mutations in the _ASNS_ gene and identified three mutations (A6E, F362V and R550C) that lead to amino acid changes in the enzyme encoded by
the gene, asparagine synthetase. This is a preview of subscription content, access via your institution ACCESS OPTIONS Access through your institution Subscribe to this journal Receive 12
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Meera Swami View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Swami,
M. Microcephaly mutations. _Nat Med_ 19, 1376 (2013). https://doi.org/10.1038/nm.3401 Download citation * Published: 07 November 2013 * Issue Date: November 2013 * DOI:
https://doi.org/10.1038/nm.3401 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently
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