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A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

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書目詳細資料
Main Authors: d Beltran-Valero, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H
格式: Artigo
語言:Inglês
出版: BMJ Group 2003
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735302/
https://ncbi.nlm.nih.gov/pubmed/14627679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.11.845
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