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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1
Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities, and macrocephaly. Legius syndrome resembles a mild neurofibromatosis type 1 (N...
সংরক্ষণ করুন:
| প্রকাশিত: | J Biol Chem |
|---|---|
| প্রধান লেখক: | , , , , , , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
American Society for Biochemistry and Molecular Biology
2016
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4751360/ https://ncbi.nlm.nih.gov/pubmed/26635368 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.703710 |
| ট্যাগগুলো: |
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