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...

詳細記述

保存先:
書誌詳細
出版年:Front Genet
主要な著者: Schleinitz, Dorit, Seidel, Anna, Stassart, Ruth, Klammt, Jürgen, Hirrlinger, Petra G., Winkler, Ulrike, Köhler, Susanne, Heiker, John T., Schönauer, Ria, Bialek, Joanna, Krohn, Knut, Hoffmann, Katrin, Kovacs, Peter, Hirrlinger, Johannes
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2018
主題:
Genetics
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6053511/
https://ncbi.nlm.nih.gov/pubmed/30057589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00245
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