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Genotype–Phenotype Correlations in Pathology Caused by Collagen Type IV alpha 1 and 2 Mutations
COL4A1 and COL4A2 are extracellular matrix proteins that form heterotrimers and are present in nearly all basement membranes in every organ. In the past decade, COL4A1 and COL4A2 mutations have been identified to cause a multi-system disorder for which penetrance and severity of constituent phenotyp...
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| Publicado no: | Matrix Biol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5328961/ https://ncbi.nlm.nih.gov/pubmed/27794444 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.matbio.2016.10.003 |
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