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Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway

Lethal congenital contractural syndrome type 2 (LCCS2) is an autosomal recessive neurogenic form of arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord. We previously mapped LCCS2 to 6.4 Mb on chromosome 12q13 and have now narrowed the locus to 4.6 Mb. We show that...

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書誌詳細
主要な著者: Narkis, Ginat , Ofir, Rivka , Manor, Esther , Landau, Daniella , Elbedour, Khalil , Birk, Ohad S. 
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950827/
https://ncbi.nlm.nih.gov/pubmed/17701904
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