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Deletion of Exon 20 of the Familial Dysautonomia Gene Ikbkap in Mice Causes Developmental Delay, Cardiovascular Defects, and Early Embryonic Lethality

Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40. The disease is characterized by abnormal development and progressive degeneration of the sensory and autonomic nervous system. A...

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書誌詳細
主要な著者: Dietrich, Paula, Yue, Junming, E., Shuyu, Dragatsis, Ioannis
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3203942/
https://ncbi.nlm.nih.gov/pubmed/22046433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0027015
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