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TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome
Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 (FBN1) gene, and mutations in FBN1 are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes TGFBR1 and TGFBR2 identified in association wit...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3299593/ https://ncbi.nlm.nih.gov/pubmed/22300218 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1477-5751-11-9 |
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