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Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly

Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. Recently, mutations in the gene encoding the enzyme...

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Principais autores: Dorit Schleinitz, Anna Seidel, Ruth Stassart, Jürgen Klammt, Petra G. Hirrlinger, Ulrike Winkler, Susanne Köhler, John T. Heiker, Ria Schönauer, Joanna Bialek, Knut Krohn, Katrin Hoffmann, Peter Kovacs, Johannes Hirrlinger
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2018-07-01
Serier:Frontiers in Genetics
Fag:
microcephaly
asparagine synthetase
mutation
compound heterozygous
exome sequencing
genetic variants
Online adgang:https://www.frontiersin.org/article/10.3389/fgene.2018.00245/full
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